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A&I > Immunological Disorders > Flashcards

Immunological Disorders Flashcards

1
Q

which complement component is decreased in acquired, but not hereditary angioedema?

A

C1q

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2
Q

which medication approved for treatment of acute attacks of HAE carries a black box warning for anaphylaxis?

A

Ecallantide (Kalbitor)

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3
Q

What is the lymphocyte phenotype (T/B/NK) with SCID secondary to a defect in Artemis?

A

T-B-NK+

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4
Q

what gene defect can lead to chronic mucocutaneous candidiasis? what are other associated clinical features?

A

AIRE gene (expressed in the thymus) resulting in autoimmune type symptoms, including endocrinopathies, hypoparathyroidism and hypoadrenalism

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5
Q

what is the mutation that causes X linked agammaglobulinemia? Clinically describe the lymphoid tissue present

A
  • BTK.
  • absent or limited lymphoid tissue secondary to no germinal centers
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6
Q

what is the molecular defect in WHIM syndrome?

A

activating dominant mutation of CXCR4, which is needed in bone marrow trafficking of progenitor cells (Warts, Hypogammaglobulinemia, Infection, Myelokathexis) syndrome

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7
Q

what are two prophylactic antibiotic options for IRAK4/MyD88 deficiency?

A

TMP-SMX and Penicillin V

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8
Q

With NK cell deficiency, what organism causes recurrent infections?

A

Herpes viruses

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9
Q

what is the triad involved with Wiskott-Aldrich syndrome? patients with this syndrome have an increased risk of developing what condition?

A
  • thrombocytopenia, eczema, and recurrent infections
  • risk of developing EBV-related lymphoma
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10
Q

Clinical characteristics of patients with GATA2 deficiency (5)

A

HPV and non-tuberculosis mycobacterial infection, myelodysplasia, pulmonary alveolar proteinosis and congenital lymphedema.

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11
Q

what is GATA2? (4)

A
  • transcription factor needed for mast cell and basophil growth/differentiation
  • result in classical NK cell deficiency
  • normal DHR and NBT
  • low B and NK cells with monocytopenia
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12
Q

transient hypogammaglobulinemia of infancy usually resolves by what age?

A

2-4 years

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13
Q

which defect in adhesion and chemotaxis causes developmental delay, microcephaly and short stature?

A

LAD 2

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14
Q

which form of SCID has the worst prognosis after stem cell transplant?

A

ADA (T-B-NK-)

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15
Q

which combined immunodeficiency is associated with an elevated alpha fetoprotein level?

A

Ataxia Telangiectasia

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16
Q

what are the levels of CD3+ T cells to be considered diagnostic in a 5 year old patient with leaky SCID

A

<600 cells/microliter

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17
Q

which of the chronic granulomatous disease defects is X linked?

A

CYBB (gp91phox)

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18
Q

which SCID type is associated with the physical finding of a rachitic rib defect?

A

ADA (adenosine deaminase) deficiency

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19
Q

Which Schwachman Diamond Syndrome gene defect is associated with achondroplasia?

A

SBDS (Schwachman-Bodian-Diamond Syndrome) gene

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20
Q

what phagocytic cell disorder is associated with the Bombay (hh) blood group?

A

LAD (leukocyte adhesion deficiency) 2

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21
Q

Differentiate Classical and Functional NK cell deficiency by laboratory findings.

A
  • Classical: decreased CD16 and decreased NK function
  • Functional: normal CD16 but decreased NK function
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22
Q

which protozoa is most commonly associated with antibody deficiencies?

A

Giardia

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23
Q

Which bacteria is associated with a late component complement deficiency?

A

Neisseria meningitidis

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24
Q

What is the characteristic triad of Job’s syndrome?

A
  • recurrent skin and lung infections
  • severe eczema
  • IgE >2000 IU/mL
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25
Q

what are the inheritance patterns of CD40 deficiency and CD40L deficiency?

A
  • CD40 is AR
  • CD40-L is X linked
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26
Q

which combined immunodeficiency is associated with short-limbed dwarfish and sparse hair?

A

Cartilage hair hypoplasia

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27
Q

in factor D deficiency, what are the levels of AH50 and CH50?

A

absent AH50, normal CH50

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28
Q

which combined immunodeficiency is associated with bamboo hair?

A

Comel Netherton Syndrome

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29
Q

which combined immunodeficiency is associated with decreased uric acid?

A

PNP (purine nucleoside phosphorylase) deficiency
- adenine (A) and guanine (G) are purines

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30
Q

what are the 2 most common IgG subclass deficiencies?

A

IgG2 and IgG3

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31
Q

what phagocytic cell disorder has a defect in the HAX1 gene?

A

Kostmann Disease (severe congenital neutropenia, with severe/recurrent infections of the respiratory tract and skin)

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32
Q

which combined immunodeficiency is associated with erythroderma, hepatosplenomegaly, eosinophilia and elevated IgE levels?

A

Omenn syndrome (diffuse, exudative erythroderma is a distinguishing feature)

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33
Q

what is the pattern of inheritance for NEMO deficiency?

A

X linked

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34
Q

What is the most common heart defect in DiGeorge Syndrome?

A

Tetralogy of Fallot (type B is most common)

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35
Q

what is the most common gene defect in DiGeorge Syndrome?

A

22q11.2DS

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36
Q

which combined immunodeficiency is associated with microcephaly, bird-like facies, increased radiosensitivity, lymphoma and/or solid tumors?

A

Nijmegen Breakage Syndrome

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37
Q

what cells are involved in acute GVH reaction?

A

CD45RO+ T lymphocyte and neutrophil engraftment

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38
Q

Name the two HIV coreceptors

A

CCR5 and CXCR4

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39
Q

Which mutation has been associated with HIV resistance (double allelic) and slower disease progression (single allelic)?

A

CCR5 delta 32 mutation.

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40
Q

Which HLA allele is associated with an increased risk of abacavir hypersensitivity?

A

HLA-B*5701

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41
Q

An autosomal dominant mutation in the gene for HIV coreceptor CXCR4 has been linked to what congenital immunodeficiency?

A

WHIM syndrome (Warts, Hypogamm, Infections, Myelokathexis)

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42
Q

Which chemokine has been strongly implicated in the development of eosinophilic esophagitis?

A

Eotaxin 3

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43
Q

SNP variant in what cytokine are over-expressed in EoE biopsy tissue?

A

TSLP

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44
Q

Which segment of the GI tract is devoid of eosinophils under normal conditions?

A

esophagus

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45
Q

what is the preferred diagnostic test for HIV infection in newborns?

A

HIV-1 DNA or RNA PCR

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46
Q

what is the preferred diagnostic test for HIV infection in >18 yo?

A

4th gen HIV immunoassay (HIV Ab and p24 antigen)

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47
Q

prompt initiation of HIV antiretroviral therapy is recommended for which group of patients with HIV infection?

A

All patients with HIV regardless of symptoms or CD4 count

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48
Q

what is the most common symptom of EoE presenting in adults?

A

dysphagia

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49
Q

what is the success rate for a four-food empiric elimination diet in EoE?

A

-60%
- milk, soy, egg, wheat

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50
Q

what is the success rate for a testing-directed elimination diet in EoE?

A

~50%

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51
Q

what is the most common food trigger in children with EoE?

A

Milk

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52
Q

what is the initial therapy for patients with HES without myeloproliferative features including those with L-HES?

A

Glucocorticoids

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53
Q

what is the first line treatment in HES with FIP1L1-PDGFRA mutation or with myeloproliferative features?

A

Imatinib (tyrosine kinase inhibitor)

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54
Q

what is the preferred treatment for patients with PDGFR+ HES and cardiac involvement?

A

Imatinib + glucocorticosteroids

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55
Q

what is the most common activating point mutation in c-kit associated with systemic mastocytosis?

A

codon 816 with a substitution of valine for aspartic acid (Asp816Val or D816V)

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56
Q

what is the genetic abnormality in alpha tryptasemia?

A

extra-allelic copies of alpha tryptase (TPSAB1)

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57
Q

what screening test must be done on patient with a diagnosed mast cell disorder

A

DEXA scan (monitor for osteoporosis)

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58
Q

which type of systemic mastocytosis is associated with cytopenias and liver injury?

A

aggressive systemic mastocytosis

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59
Q

what is the major criterion for systemic mastocytosis?

A

bone marrow biopsy showing multifocal, dense infiltrates of mast cells (>15 mast cells in aggregates)

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60
Q

which pathogenic organisms share the same vector (Ixodes tick) and can cause coinfection in patients with Lyme disease (2)?

A
  • Babesia microti
  • Anaplasma phagocytophilum (human granulocytic anaplasmosis)
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61
Q

How is the definite diagnosis of babesiosis made?

A

Microscopy: thin smear

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62
Q

when would you expect anti-IgM and anti-IgG to appear after B. burgdorferi infection?

A
  • IgM: 1-2 weeks.
  • IgG: 4-6 weeks
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63
Q

what monoclonal therapy agents can cause reactivation of TB? (2)

A

Anti-TNF alpha antibody and TNF alpha receptor Ab

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64
Q

what TLR receptors are important in the innate immune response to TB? what adapter protein do they activate?

A
  • TLR 2 and 4
  • MyD88
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65
Q

what cytokines do TB-infected macrophages secrete to stimulate naive T cells to differentiate into T helper 1 cells? (3)

A

IL 12, 18 and 23

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66
Q

activation of which transcription factor is needed in order to transcribe IFN-gamma regulated genes?

A

STAT1

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67
Q

on what criteria does the WHO base its classification of leprosy?

A

number and smears of skin lesions

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68
Q

if a person has >6 poorly demarcated lesions, what does it say about their immune response to Mycobacterium leprae?

A

they have a selective inability to mount a cellular response to M. leprae

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69
Q

which type of leprosy is most likely to develop a type II reaction (erythema nodosum leprosum)?

A

Multibacillary leprosy (MB)

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70
Q

how does hepatitis A virus injure hepatocytes?

A
  • HAV is not hepatotoxic
  • HAV-specific CD8+ cells and NK cells cause injury to hepatocytes
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71
Q

when should chronic hepatitis B be treated in children?

A

when it is in immune active stage (abn ALT and HBV DNA >20,000 IU/mL)

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72
Q

what type of cryoglobulinemia is associated with hepatitis C?

A
  • Mixed cryoglobulinemias (type II and III)
  • contain monoclonal and polyclonal Ig (IgM typically has RF activity, which forms complexes with Fc portion of IgG)
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73
Q

what are the indications to undergo penicillin desen in PCN allergic patients who require Abx tx for syphilis? (3)

A
  • congenital syphilis
  • syphilis in pregnant women
  • neurosyphilis
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74
Q

?what are other abx that can be used for syphilis in PCN-allergic pt? (4)

A
  • Early syphilis: tetracyclines, macrolides, or CTX
  • late syphilis: doxycycline
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75
Q

what is a Jarisch-Herxheimer reaction

A

acute febrile reaction associated with headache and myalgias within first 24h of PCN treatment of syphilis

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76
Q

how often should otitis media with effusion be evaluated?

A

every 3-6 months until resolution

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77
Q

when should you obtain a baseline hearing test after the onset of otitis media with effusion?

A

3 months

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78
Q

in acute otitis media with conjunctivitis, what pathogen is the most likely culprit?

A

H. influenzae

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79
Q

after how many episodes of acute OM should a referral be placed to ENT for possible tympanostomy placement? (2)

A
  • > 3x/ 6months
  • > 4x/1yr with at least 1 episode in the previous 6 months.
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80
Q

what signs/sx of acute OM in a patient >2yo would prompt abx therapy instead of observation? (3)

A
  • toxic-appearing
  • moderate-severe otalgia
  • > 102.2F
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81
Q

what is the most common cause of infectious fungal sinusitis?

A

Aspergillus fumigatus

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82
Q

what is the hallmark of allergic fungal sinusitis?

A
  • sinus opacification due to accumulation of allergic mucin that is filled with eosinophils, Charcot-Laden crystals and fungal hyphae
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83
Q

what is the treatment of choice for acute bacterial rhinosinusitis? When are higher doses indicated? (9)

A
  • Augmentin
  • if patient lives in an area with high endemic rates of resistant S. pneumo, has fever >102F, risk of suppurative complications, participates in day care, <2yo, >65yo, recently hospitalized, used abx within the previous month or is immunocompromised
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84
Q

what is the definition of recurrent pneumonia in children?

A

> or = to 2 episodes in 1 year OR >3 episodes ever with normal xray between episodes

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85
Q

what is the definition of ventilator associated pneumonia?

A

PNA that occurs >48-72 hours after endotracheal intubation

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86
Q

what is the definition of recurrent PNA for adults

A

> 1 episode per 10 years

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87
Q

what is the criteria to diagnose CRS?

A

> 2 sx of ARS for >12 weeks + documentation of inflammation

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88
Q

Presence of what physical exam finding helps to distinguish bronchiolitis from viral-induced wheezing ?

A

rales

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89
Q

what is the typical management of bronchiolitis?

A

supportive.
- bronchodilators, steroids and LTRA have not been shown to be consistently effective

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90
Q

which type of parainfluenza virus most often causes acute laryngotracheitis?

A

Parainfluenza virus type 1

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91
Q

which antibodies are associated with drug induced lupus?

A

anti-histone Ab.

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92
Q

what Ab are associated with neonatal lupus

A

anti-Ro/SSA
anti-LA/SSB

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93
Q

what symptoms are associated with the anti-synthetase syndrome of dermatomyositis or polymyositis? (4)

A
  • arthritis
  • myositis
  • interstitial lung disease
  • “mechanic’s hands” (cracked, furrowed hands)
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94
Q

What autoantibody is associated with good prognosis in CREST syndrome?

A

anti-centromere antibody

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95
Q

what is Felty syndrome?

A

triad of rheumatoid arthritis, neutropenia, splenomegaly

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96
Q

the incidence of which lymphoma is very high in patients with X linked lymphoproliferative syndrome?

A

Ileocecal B cell lymphoma

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97
Q

What pathogen should be considered an unlikely cause of PNA prior to prescribing a fluoroquinolone?

A

Tuberculosis

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98
Q

what viral infection is associated with cryoglobulinemia, and with what types?

A

Hepatitis C virus, with type 2 and 3

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99
Q

what type of cell is typically seen in Hodgkin’s lymphoma?

A

Reed-Sternberg cell (B lymphocyte origin)

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100
Q

which gene translocation is often seen with Burkitt’s lymphoma?

A

c-myc gene translocation, found at 8q24.

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101
Q

during a TRALI (transfusion related acute lung injury), which chemotactic factor is mainly responsible for pulmonary leukosequestration?

A

C5a

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102
Q

cold-reactive AIHA is seen when IgM binds to which polysaccharide antigen on RBCs?

A

I antigen

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103
Q

when should anti-D Ig be administered to pregnant women? (2)

A

28th week of gestation or within 72h of antepartum event involving placenta/fetal trauma or fetomaternal bleeding.

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104
Q

what markers are detectable during the “window period” in Hepatitis B infection?

A

IgM Ab to Hep B core antigen (HBcAg)

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105
Q

what do serology screening detect in Hep C?

A

Antibodies to recombinant antigens from the core

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106
Q

A positive HCV serology should be confirmed with what test?

A

HCV RNA assay (should always be sent on immunocompromised patients)

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107
Q

In mastocytosis, what markers do mast cells in bone marrow express? (3)

A

CD2 and/or CD25 on CD117+ mast cells

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108
Q

which sinus is most associated with complications of sinusitis

A

sphenoid sinus

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109
Q

which CD markers are alpha/beta double negative T cells lacking?

A

CD4 and CD8

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110
Q

what is the most common genetic cause of autoimmune lymphoproliferative syndrome (ALPS)?

A

FAS

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111
Q

what are three main signs of Grave’s disease?

A
  • hyperthyroidism
  • exophthalmos
  • pretibial myxedema
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112
Q

what autoinflammatory disease is characterized by severe infantile-onset inflammatory bowel disease and an increased propensity for diffuse large B cell lymphoma?

A

IL-10 deficiency

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113
Q

Candidiasis in autoimmune polyendocrine syndrome-1 (APS-1 or APECED) is due to antibodies against which target? (2)

A

IL-17 and IL-22

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114
Q

which subset of T cells is significantly decreased or absent in IPEX? (4)

A

CD4+, CD25+, FoxP3+ and T regulatory cells

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115
Q

antibodies against GAD (glutamic acid decarboxylase) are found in which neurologic condition?

A

Stiff-Person syndrome (also anti-amphiphysin; excessive firing of the motor unit, associated with thymoma, vitiligo, T1DM)

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116
Q

Subepithelial deposits are found in which type of immune mediated kidney disease?

A

membranous nephropathy

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117
Q

what is the treatment of choice for poststreptococcal glomerulonephritis?

A

supportive therapy only

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118
Q

which infectious disease is most closely associated with essential mixed cryoglobulinemia

A

Hep C

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119
Q

Minocycline use is associated with which type of nephritis?

A

Pauci-immune crescentic glomerulonephritis (drug-induced ANAC-associated vasculitis)

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120
Q

What is the characteristic pathology of dermatitis herpetiformis?

A

subepidermal IgA granular deposits within dermal papillae on immunofluorescence

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121
Q

ASCA (anti-saccharomyces cerevisiae Ab) Antibodies are more likely to be positive in which type of IBD?

A

Crohn’s disease

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122
Q

What complex of proteins within the innate immune system is a common mediator of autoinflammatory syndromes?

A

Inflammasome

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123
Q

Which autoinflammatory syndrome has attacks that can last upward of weeks?

A

TRAPS (tumor necrosis factor-receptor associated periodic syndrome)

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124
Q

what are triggers for attacks in patients with mevalonate kinase deficiency (hyper-IgD syndrome)? (2)

A

stress and vaccinations

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125
Q

What monoclonal antibodies are used to target Il-1? (2)

A

Anakinra, Rilonacept, canakinumab

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126
Q

what test is needed to elicit the cold urticaria in PLCgamma2-associated antibody deficiency and immune dysregulation (PLAID) and familial cold autoinflammatory syndrome

A

Evaporative cooling test (NOT the ice cube test)

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127
Q

A 46-year-old woman with a history of progressive hearing loss presents with recurrent episodes of fever, diffuse urticaria, and diffuse joint pains triggered by cold temperatures. Also has proteinuria and kidney biopsy shows AA (amyloidosis) deposits. what is the diagnosis?

A

Muckle-Wells syndrome

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128
Q

a 60-year-old woman presents with renal failure and nephrotic syndrome. A renal biopsy demonstrates apple-green birefringence and polarized light, confirming amyloidosis. what is the best test to rule out a possible multiple myleloma?

A

Serum protein electrophoresis (SPEP) to look for paraprotein peak.

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129
Q

What infections are associated with type II and III cryoglobulinemia? (5)

A

Hep C, Hep B, HIV, herpesvirus, mycobacteria

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130
Q

the presence of what antibody distinguished from type I from types II and III cryoglobulinemia?

A

Rheumatoid factor (type I does not have RF. type II and III do)

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131
Q

what blood dyscrasias are associated with primary amyloidosis?

A

multiple myeloma, Waldenstrom’s macroglobulinemia, or non-Hodgkin’s lymphoma

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132
Q

what cytokine (important for maturation of B cells) has been implicated in cryoglobulinemia secondary to monoclonal B cells?

A

BAFF (B cell activating factor)

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133
Q

what is an inexpensive lab to look for evidence of cryoglobulinemia?

A

C3/C4 (to look for consumption)

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134
Q

what autoimmune disorder is associated with macrophage activation syndrome?

A

Systemic JIA (formerly known as Still’s disease)

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135
Q

what are some genetic risk factors for SLE? (4)

A

HLA-DR2
HLA-DR3
early complement deficiencies (C1,2,4)
FcgammaII/III polymorphisms

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136
Q

what monoclonal antibody targets CTLA-4 and can be used in RA?

A

Abatacept

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137
Q

what JAK inhibitors are commercially available in treatment of RA? (3)

A

Tofacitinib, baricitinib, Ruxolitinib

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138
Q

what are clinical manifestations of Majeed syndrome? (5)

A

fevers, bone lesions, relapsing episodes of pain, psoriatic appearing rashes, congenital dyserythropoetic anemia

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139
Q

what is Majeed syndrome?

A
  • chronic recurrent multifocal osteomyelitis
  • mutation in lipin 2 (LPIN2) gene.
  • autosomal dominant
  • an enzyme that is important in glycerolipid metabolism
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140
Q

what is the genetic mutation in Blau syndrome?

A

gain of function mutation in NOD2

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141
Q

what type of mutation in NOD2 is associated with Crohn’s disease?

A

loss of function in NOD2

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142
Q

Berylliosis is histologically indistinguishable from which other pulmonary granulomatous syndrome?

A

Sarcoidosis (but need occupational history to diagnosis berylliosis)

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143
Q

What is Berylliosis?

A
  • due to environmental exposure to beryllium (often in occupational setting, electronics and space industries)
  • clinically identical to sarcoidosis
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144
Q

what type of ANCA antibody is found in 75-90% of patients with granulomatosis with polyangiitis?

A

c-ANCA (proteinase 3 or PR3)

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145
Q

what are the classical infectious causes of granuloma formation? (4)

A

Tuberculosis
histoplasmosis
blastomycosis
coccidiomycosis

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146
Q

what secreted molecules are important in the formation of granulomas? (5)

A

ACE
1,25-dihydroxy-vitamin D
osteoporin
IFN gamma
TNF alpha

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147
Q

what primary immunodeficiencies are associated with granuloma formation? (2)

A

Chronic granulomatous disease
CVID

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148
Q

what are some examples of Th2 dominated granulomatous disease? (2)

A

Eosinophilic granulomatosis with polyangiitis (aka Churg-Strauss syndrome)
lepromatous leprosy

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149
Q

which of the granulomatous disease would best respond to anti-IL5 biologic therapy

A

Eosinophilic granulomatosis with polyangiitis (aka Churg-Strauss syndrome)

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150
Q

which of the granulomatous disease is characterized by a triad of sinus, lung and kidney involvement?

A

Granulomatosis with polyangiitis (Wegener’s Granulomatosis)

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151
Q

Which additional allele (aside from HLA-A, B, DRB1) is assessed for adult donors as opposed to umbilical cord blood?

A

HLA-C

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152
Q

name 3 diseases other than cystic fibrosis that are associated with nasal polyps

A

AERD
Churg-Strauss syndrome
Kartagener syndrome (PCD)

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153
Q

for which mutation is lumacaftor-ivacaftor FDA approved?

A

Homozygous F508del (for cystic fibrosis)

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154
Q

what sweat chloride result is diagnostic of CF in children?

A

> or = 60 Eq/L in at least 2 measurements

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155
Q

what is the C1-inhibitor gene that most commonly causes defects in HAE?

A

SERPING1

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156
Q

what mediator causes the angioedema in HAE?

A

bradykinin

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157
Q

what is the most common gene mutation causing CFTR channel regulation defects?

A

G551D

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158
Q

Nasal polyps in CF contain mostly what type of cells?

A

neutrophils

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159
Q

what are the key cytokine players in CVHD? (3)

A

IL-10, TNF alpha, IFN gamma

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160
Q

in acute mediated immune rejection of solid organs, what complement is found deposited in capillaries?

A

C4d

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161
Q

what is the key role of HLA-G and F?

A

to protect fetus from maternal immune rejection

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162
Q

when do levels of maternally derived IgG reach a nadir after birth?

A

3-6 months

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163
Q

what to uterine NK cells produce that is essential in decidual development?

A

IFN-gamma

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164
Q

which form of SCID has the best prognosis after stem cell transplant?

A

T-B+NK- (defective CD45 or leukocyte common antigen)

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165
Q

name 7 risks for non-engraftment of stem cell transplant

A

(LORD NIC)
- low stem cell dose
- older age of donor
- recipient T lymphocyte function
- degree of HLA mismatch
- NK cell function
- infection
- conditioning regimen

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166
Q

Gain-of-function mutations in which transcription factor causes myelodysplastic syndrome?

A

GOF in JAK2

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167
Q

clinical features of Dock8 deficiency (6)

A
  • AR hyper IgE syndrome
  • respiratory infections
  • difficult to treat viral and staph skin infections (HPV, HSV, molluscum, etc)
  • mucocutaneous candidiasis
  • severe atopy
  • high incidence of malignancy
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168
Q

Mutation in ELANE causes what dz?

A

Cyclic neutropenia (AD)

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169
Q

Mutation in HAX-1 leads to?

A

Kostmann’s syndrome (AR)

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170
Q

Mutation in CHS1

A

Chediak-Higashi syndrome
(Primary and secondary granules fail to separate)

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171
Q

Characteristics of Chediak-Higashi syndrome (9)

A

Recurrent cutaneous and sinopulm infections
-GNR, staph, strep
- partial oculo-cutaneous albinism
- Silvery shine on hair
- intellectual impairment
- Peripheral neuropathy (late)
- lymphoproliferative accelerated stahe (late)
- giant granules, killing and chemotactic defects
- mutations in Lyst (CHS1)

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172
Q

BMT for Chediak Higashi does not improve which signs/sx? (2)

A

Neuropathy and intellectual impairment

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173
Q

5 frequent offenders in CGD in US

A
  • Staph aureus
  • Serratia marcescens
  • Burkholderia cepacia
  • Nocardia spp
  • Aspergillus spp
174
Q

What is the most common form of AR CGD?

A

p47phox mutation (NCF1 gene)

175
Q

what kind of nonpruritic rash may precede swelling episodes in HAE?

A

erythema marginatum

176
Q

mechanism of HAE-ANGPT1 (angiopoietin-1)

A

mutation does not lead to overproduction of bradykinin, rather it cannot counteract the actions of bradykinin or VEGF

177
Q

mechanism of acquired C1 INH deficiency

A

consumption of C1-INH by neoplastic lymphatic tissue
- associated with non-Hodgkin’s lymphoma

178
Q

levels of C1-INH, its function, C1q, C4 and C3 in acquired C1-INH deficiency

179
Q

mechanism of action for attenuated androgens in HAE

A
  • prevent attacks by inducing hepatic synthesis of C1-INH
180
Q

examples of attenuated androgens used in HAE (2)

A

danazol, stanozolol

181
Q

side effects of attenuated androgens used in HAE (4)

A
  • hepatotoxicity
  • dyslipidemia
  • masculinization
  • HA
182
Q

ppx regimen with attenuated androgens prior to oral or general surgical procedures

A
  • high dose for 5 days before the procedure and 3 days after the procedure (total 8 days)
183
Q

long term ppx medications for HAE (4)

A
  • plasma derived C1-INH (Cinryze, Haegarda)
  • Kalikrein inhibitors (lanadelumab/TAkhzyro, Berostralstat/Orladeyo)
  • androgens
  • antifibrinolytics (tranexamic acid)
184
Q

acute attack medications for HAE (4)

A
  • Berinert (plasma derived C1-INH)
  • Ruconest (recombinant human C1 inhibitor)
  • Ecallantide (Kalbitor)
  • icatibant (Firazyr)
185
Q

medications for HAE approved for pregnant or breastfeeding women (2)

A

Berinert, Ruconest

186
Q

indications, route of administration, MOA and side effects of Berinert

A
  • Acute attack in all ages, including pregnant and breastfeeding women
  • IV
  • inhibits plasma kallikrein, coag factors XIIa, XIa, C1s, C1r, MASP-1, MASP-2, plasmin
  • risk of anaphylaxis, transmission of infectious agent
187
Q

indications, route of administration, MOA and side effects of Cinryze

A
  • ppx > 6yo
  • IV
  • inhibits plasma kallikrein, coag factors XIIa, XIa, C1s, C1r, MASP-1, MASP-2, plasmin
  • risk of anaphylaxis, transmission of infectious agent
188
Q

indications, route of administration, MOA and side effects of Haegarda

A
  • ppx >12yo
  • SC
  • inhibits plasma kallikrein, coag factors XIIa, XIa, C1s, C1r, MASP-1, MASP-2, plasmin
  • injection site reaction, risk of anaphylaxis, transmission of infectious agent
189
Q

indications, route of administration, MOA and side effects of recombinant human C1 inhibitor (Ruconest)

A
  • acute attacks in >13yo, including pregnant and breastfeeding women
  • IV
    – inhibits plasma kallikrein, coag factors XIIa, XIa, C1s, C1r, MASP-1, MASP-2, plasmin
  • risk of anaphylaxis (if RABBIT SENSITIZED), transmission of infectious agent
190
Q

indications, route of administration, MOA and side effects of ecallantide

A
  • acute attacks >12yo
  • SC
  • inhibits plasma kallikrein
  • prolonged PTT, risk of anaphylaxis, antidrug Ab
191
Q

indications, route of administration, MOA and side effects of icatibant

A
  • acute attacks >18yo
  • SC
  • bradykinin B2 receptor antagonist
  • injection site discomfort
192
Q

indications, route of administration, MOA and side effects of lanadelumab

A
  • ppx >2yo
  • SC
  • inhibits plasma kallikrein
  • injection site discomfort, dizziness, prolonged PTT, risk fo anaphylaxis
193
Q

OB/GYN considerations in HAE (3)

A
  • estrogens should be avoided, progestins can be used
  • androgens are contraindicated
  • plasma derived C1-INH ppx is recommended for C/S and forceps/vacuum assisted delivery
194
Q

Kallikrein-Bradykinin pathway

195
Q

treatment for idiopathic angioedema

A

prophylactic antihistamines are mainstay of treatment, similar to CSU

196
Q

T-B+NK- SCID and its mutation (2)

A
  • common gamma chain (CD132) deficiency = IL2RG mutation
  • Jak 3 deficiency = Jak 3 mutation
197
Q

T-B+NK+ SCID and its mutation (4)

A
  • IL7R alpha = IL7R mutation
  • CD3 epsilon = CD3E
  • CD45 = PTPRC (protein tyrosine phosphatase receptor type c)
  • Coronin-1A deficiency = CORO1A
198
Q

clinical finding in Coronin-1A deficiency that is different from other T-B+NK+ SCID

A

normal thymus. others have absent thymus

199
Q

T-B-NK- SCID and its mutation (3)

A

ADA Deficiency = ADA mutation
activated Rac2 defect = RAC2
reticular dysgenesis = AK2

200
Q

clinical characteristics of ADA deficiency (6)

A
  • AR
  • chondrosternal dysplasia (rachitic rosary ribs)
  • abn iliac bone
  • deafness
  • pulmonary alveolar proteinosis
  • cognitive defects
201
Q

difference in pathogenesis between activated Rac2 defect and reticular dysgenesis

A
  • both result from the accumulation of toxic metabolites, but Rac2 defect is in the nucleotide salvage pathway
  • reticular dysgenesis in the hematopoietic energy metabolism
202
Q

clinical characteristics of activated Rac2 deficiency (3)

A

-AR
- lymphoproliferation
- neutropenia

203
Q

clinical characteristics of reticular dysgenesis (3)

A
  • AR
  • severe neutropenia
  • sensorineural deafness
204
Q

T-B-NK+ SCID and its mutation (2)

A
  • Cernunnos/XLF deficiency (XLF = XRCC4 like factor) = NHEJ1 mutation
  • Artemis/ DCLRE1C deficiency = DCLRE1C
205
Q

clinical characteristics of Cernunnos/XLF deficiency (5)

A
  • microcephaly
  • facial dysmorphism (bird-like face)
  • dev delay
  • growth failure
  • radiation sensitivity
206
Q

clinical characteristics of Artemis/DCLRE1C deficiency (6)

A
  • AR
  • increased risk of graft rejection
  • diarrhea
  • candidiasis
  • radiation sensitivity
  • NO MICROCEPHALY
207
Q

Genetic mutation and characteristics of MHC II deficiency (6)

A
  • RFXANK, CIITA, RFX5, RXAP
  • AR
  • CD4 lymphopenia
  • FTT
  • respiratory and GI infections
  • liver/biliary tract dz
208
Q

Genetic mutation and characteristics of LCK deficiency (8)

A
  • LCK mutation
  • AR
  • low CD4, but normal MHC II expression
  • low Tregs
  • restricted T cell repertoire
  • poor TCR signaling
  • high IgM
  • immune dysregulation/autoimmunity
209
Q

Genetic mutation and characteristics of polymerase delta deficiency (8)

A
  • POLD1,2 mutation
  • AR
  • low CD4, but normal MHC II expression
  • low B cells and Ig
  • recurrent resp tract infections
  • skin infections, like warts and molluscum
  • short stature
  • intellectual disability
210
Q

Genetic mutation and characteristics of MHC I deficiency (6)

A
  • TAP1,2 or TAPBP mutations
  • AR
  • low CD8 with absent MHC I expression
    -normal Ig
  • vasculitis
  • pyoderma gangrenosum
211
Q

Genetic mutation and characteristics of ZAP-70 deficiency (6)

A
  • ZAP70 mutation
  • AR
  • low CD8 but normal MHC I expression
  • low CD4 function
  • norma Ig
  • immune dysregulation/autoimmunity
212
Q

Genetic mutation and characteristics of Omenn syndrome (12)

A
  • hypomorphic mutations of RAG1/2
  • AR
  • low B cells
  • eosinophilia
  • high IgE
  • high inflammatory markers
  • erythroderma
  • increased lymphoid tissues
  • hepatosplenomegaly
  • diarrhea, FTT
  • alopecia
  • recurrent infections
213
Q

Genetic mutation and characteristics of Hyper-IgE type I/Job’s syndrome (12)

A
  • LOF STAT3
  • AD!
  • triad of recurrent skin/lung infections, severe eczema, and IgE>2000
  • eosinophilia
  • normal IgM
  • ABSENT Th17
  • mucocutaneous candidiasis
  • pna with pneumatoceles
  • coarse facial features, prominent mandible, hyperextensible joints and broad nose
  • increased bone fractures, scoliosis
  • retained primary teeth
  • aortic aneurysms
214
Q

Genetic mutation and characteristics of Hyper-IgE type II/DOCK8 (10)

A
  • DOCK8
  • AR
  • low memory B cells, NK cells
  • high IGE, low IGM
  • high eos, Tregs
  • severe eczema
  • cutaneous viral and staph infections
  • severe mucocutaneous candidiasis
  • risk of malignancy (lymphoma)
  • NO pneumatoceles, skeletal or dental abn
215
Q

Genetic mutation and characteristics of Hyper-IgE type III (5)

A
  • Tyk2
  • AR
  • similar to DOCK8 def
  • disseminated BCG lymphadenitis and salmonellosis
  • Tyk2 is involved in IL12 signaling to produce IFNg
216
Q

Genetic mutation and characteristics of CD40L deficiency (7)

A
  • CD40LG
  • X linked RECESSIVE Hyper IgM!
  • ABSENT germinal centers
  • normal IgM, but low other isotypes
  • neutropenia, low/nl T cells
  • opportunistic infections (cryptosporidium)
  • liver/biliary tract dz
217
Q

Genetic mutation and characteristics of CD40 def (3)

A
  • CD40 mutation
  • AR
  • similar to CD40L def
218
Q

Genetic mutation and characteristics of Wiskott Aldrich (11)

A
  • WASp mutation
  • X linked RECESSIVE
  • triad of low plt, eczema, immunodef
  • small plt size and low function
  • high IgA, low IgM, low Ab response
  • progressive decline in T cells
  • EBV-related B cell lymphoma
  • recurrent bacterial and viral infections
  • bloody diarrhea
  • autoimmune dz when older
  • IgA nephropathy/vasculitis
219
Q

Genetic mutation and characteristics of WIP deficiency (8)

A
  • WIPF1
  • AR
  • absent WAS protein
  • congenital thrombocytopenia
  • high IgE,
  • low/normal B cells
  • low T cells
  • defective lymphocyte response to anti-CD3
220
Q

Genetic mutation and characteristics of cartilage hair hypoplasia (9)

A
  • RMRP
  • AR
  • low/nl Ig, variable T cell levels, impaired lymphocyte proliferation
  • short limbed dwarfism with metaphyseal dysostosis
  • sparse hair
  • susceptibility to lymphoma and other ca
  • autoimmunity
  • impaired spermatogenesis
  • neuronal dysplasia of the intestine
221
Q

Genetic mutation and characteristics of Jacobsen (7)

A
  • 11q23del
  • low NK, B and switched memory B cells
  • hypogamm
  • recurrent resp infections
  • multiple warts
  • facial dysmorphism
  • growth retardation
222
Q

Genetic mutation and characteristics of Comel Netherton syndrome (9)

A
  • SPINK5
  • AR
  • mainly humoral def
  • low switched and unswitched B cells
  • high IgE, IgA
  • congenital ichthyosis
  • bamboo hair
  • atopy
  • bacterial infections
223
Q

Genetic mutation and characteristics of NEMO def (10)

A
  • IKBKG (NEMO)
  • x linked RECESSIVE
  • monocyte dysfunction
  • low Ig, poor Ab response
  • normal B cells, but low memory and switched B cells
  • impaired T cell activation
  • associated with anhidrotic ectodermal dysplasia
  • bacterial, viral, mycobacterial and fungal infections
  • colitis
  • variable defects of skin, hair and teeth
224
Q

Genetic mutation and characteristics of Purine Nucleotide Phosphorylase (PNP) (7)

A
  • PNP
  • AR
  • nl B cells, low/nl Ig
  • progressive decline in T cells
  • decreased uric acid
  • autoimmune hemolytic anemia
  • neurologic impairment
225
Q

Genetic mutation and characteristics of ORAI-1 def and STIM1 def (8)

A
  • ORAI-1 / STIM1
  • AR
  • Ca channel defect
  • normal T, B cells and Ig
  • defective TCR activation
  • autoimmunity
  • anhidrotic ectodermal dysplasia
  • non progressive myopathy
226
Q

Genetic mutation and characteristics of immunodeficiency with intestinal atresias (6)

A
  • TTC7A
  • AR
  • low/nl B cells, but markedly low Ig
  • variable or absent T cells (low TREC)
  • bacterial, viral, and fungal infections
  • often with intrauterine polyhydramnios and early demise
227
Q

Genetic mutation and characteristics of STAT5b def (8)

A
  • STAT5b
  • AR
  • high Ig, IgE
  • growth hormone insensitive dwarfism
  • dysmorphic features
  • eczema
  • lymphocytic interstitial pneumonitis
  • autoimmunity
228
Q

Genetic mutation and characteristics of Ataxia Telangiectasia (11)

A
  • ATM
  • AR
  • low Ig, except high IgM
  • progressive decline in T cells
  • abn T cell prolif to mitogens
  • high alpha fetoprotein
  • ataxia, telangiectasia
  • pulm infections
  • lymphoreticular and other malig
  • radiosensitivity
  • chromosomal instability and translocations
229
Q

Genetic mutation and characteristics of Nijmegen Breakage syndrome (9)

A
  • NBS1
  • AR
  • variable B cell levels
  • low Ig except for high IgM
  • progressive decline in T cells
  • microcephaly, bird like face,
  • lymphomas, solid tumors
  • radiosensitivity
  • chr instability
230
Q

Genetic mutation and characteristics of Bloom syndrome (9)

A
  • BLM
  • AR
  • low Ig
  • short stature
  • bird like face
  • sun-sensitive erythema
  • marrow failure
  • leukemia, lymphoma
  • chr instability
231
Q

clinical characteristics of XLA (7)

A
  • small/absent lymphoid tissue
  • no germinal centers
  • normal pro B cells, T cells
  • sinopulm infections
  • enteroviral encephalitis
  • lymphoreticular or colorectal malig
  • bronchiectasis
232
Q

characteristics of mu heavy chain def

A
  • AR
  • severe bacterial infections (can be more severe and earlier than XLA)
  • absent B cells, Ig
  • most common AR agammaglobulinemia
233
Q

characteristics of Ig alpha, beta and BLNK def (3)

A
  • AR
  • absent B cells and Ig
  • severe bacterial infections
234
Q

characteristics of lamda5 def

A
  • IGLL1 mutation
  • AR
  • absent B cells and Ig
  • normal pro-B cells
  • severe bacterial infections
235
Q

characteristics of p100 def

A
  • PIK3CD
  • absent B cells and Ig
  • severe bacterial infections
  • autoimmune complications
236
Q

diagnostic criteria for CVID (4)

A
  • low IgG AND IgA or IgM
  • absent isohemagglutinins and/or impaired response to vaccine
  • onset after age 2
  • other causes excluded
237
Q

genetic mutation for TACI def

238
Q

characteristics of NFKB1 def (7)

A
  • AD!
  • low/nl B cells and Ig
  • low memory B cells
  • recurrent sinopulm infections
  • EBV proliferation
  • autoimmune cytopenias, thyroiditis
  • alopecia
239
Q

characteristics of NFKB2 def (5)

A
  • AD!
  • low B cells
  • recurrent sinopulm infections
  • alopecia
  • endocrinopathies
240
Q

characteristics of AID def (6)

A
  • Hyper-IgM syndrome
  • AICDA mutation
  • AR or AD
  • normal memory B cells, but lack somatic hypermutation in AR form
  • enlarged LN and germinal centers
  • bacterial infections
241
Q

characteristics of UNG def (3)

A
  • hyper-IgM synd
  • UNG mutation
  • similar to AID def
242
Q

characteristics of selective IgM def (2)

A
  • absent IgM, but normal B cells
  • pneumococcal/bacterial infections
243
Q

when does transient hypogam of infancy resolve by?

244
Q

which class of medication can cause IgG subclass def?

A

anti-epileptics

245
Q

surface markers for switched and unswitched memory B cells (2 each)

A
  • unswitched: IgD+, CD27+
  • switched: IgD-, CD27+
246
Q

characteristics of Shwachman Diamond syndrome (4)

A
  • SBDS mutation
  • AR
  • pancytopenia
  • exocrine pancreatic insuff
  • achondroplasia
247
Q

characteristics of Elastase def (4)

A
  • ELANE
  • AD!
  • susceptibility to MDS/leukemia
  • severe congenital neutropenia or cyclic neutropenia
248
Q

characteristics of Kostmann disease (4)

A
  • HAX1
  • AR
  • cognitive and neurological defects
  • susceptibility to MDS/leukemia
249
Q

characteristics of X linked neutropenia (5)

A
  • WAS
  • X linked recessive
  • myeloid maturation arrest
  • monocytopenia
  • variable lymphoid anomalies
250
Q

characteristics of LAD1 (8)

A
  • ITGB2
  • severity correlates with degree of def of CD18
  • CD18 binds to LFA-1 (CD11a), Mac-1 (CD11b), and p150,95 (CD11c)
  • high WBC with neutrophilia
  • delayed umbilical cord separation
  • no pus formation
  • necrotic skin
  • gingivitis/ periodontitis with early loss of teeth
251
Q

characteristics of LAD2 (7)-

A
  • SLC35C1, FUC1
  • absence of CD15a (sLex) –> defect in WBC rolling
  • NO delayed umbilical cord separation
  • impaired but not absent pus formation
  • Bombay (hh) blood group
  • dev delay
  • facial dysmorphism
252
Q

characteristics of LAD3

A
  • FERMT3
  • similar to LAD1
  • a severe bleeding disorder
253
Q

characteristics of GATA2 def (7)

A
  • AD
  • multi-lineage cytopenias
  • low B and NK cells with monocytopenia
  • normal DHR and NBT
  • susceptibility to Mycobacteria, papilloma viruses, histoplasmosis and lymphedema
  • alveolar proteinosis
  • myelodysplasia/AML/CML
254
Q

genetic mutation for X-linked CGD

A
  • CYBB (p91phos)
255
Q

genetic mutations for AR CGD (4)

A
  • p47phos = NCF1
  • p22phos = CYBA
  • p40phos = NCF4
  • p67phos = NCF2
256
Q

clinical characteristics of IRAK4 def (4)

A
  • AR
  • predisposition to invasive bacterial infections causing sepsis, arthritis, osteomyelitis, abscesses, and meningitis
  • often WITHOUT fever
  • usually improve with age
257
Q

predominant pathogens for IRAK4 def and MyD88 def(3)

A
  • S. pneumo
  • S. aureus
  • Pseudomonas aeruginosa
258
Q

specific testings for IRAK4 def and MyD88 def (2)

A
  • lack of proinflammatory cytokine production
  • Cd62L shedding
259
Q

clinical characteristics of MyD88 def (5)

A
  • very similar to IRAK4 def
  • AR
  • predisposition to invasive bacterial infections causing sepsis, arthritis, osteomyelitis, abscesses, and meningitis
  • often WITHOUT fever
  • usually improve with age
260
Q

genetic mutations associated with chronic mucocutaneous candidiasis (2)

A
  • STAT1 GOF = AD
  • CARD9 or IL7RC = AR
261
Q

clinical characteristics of AR chronic mucocutaneous candidiasis (3)

A
  • noninvasive thrush, esophageal candidiasis, candidal dermatitis
  • dystrophic nails
  • enamel hypoplasia
262
Q

laboratory characteristics of AR chronic mucocutaneous candidiasis (2)

A
  • decreased T cell proliferation to mitogens
  • occasional IgA def
263
Q

clinical characteristics of AD chronic mucocutaneous candidiasis (5)

A
  • predisposed to parasitic and fungal infections
  • also bacterial and viral infections
  • autoimmune disorders (thyroiditis, diabetes, cytopenias)
  • enteropathy
  • vasculitis
264
Q

genetic mutation and characteristics of EVER1 and EVER2 def (4)

A
  • TMC6 (EVER1), TMC8 (EVER2)
  • AR
  • epidermodysplasia verruciformis (HPV B1) infections
  • cancers of skin
265
Q

genetic mutation and characteristics of WHIM syndrome (6)

A
  • AD GOF mutation in CXCR4
  • Warts, Hypogamm, Infections, Myelokathexis
  • predominant susceptibility to viral infections –epidermodysplasia verruciformis (HPV B1)
  • warts with risk of malig transformation
  • sinopulm infections
  • low B cells ANC
266
Q

GOF mutation in CXCR4 results in?

A

WHIM syndrome (AD)

267
Q

genetic mutation and characteristics of STAT1 def (2)

A
  • AR LOF (Not GOF)
  • predisposition to severe viral and mycobacterial infections
268
Q

genetic mutation and characteristics of STAT2 def (3)

A
  • AR
  • predisposition to severe viral infections
  • disseminated vaccine strain measles
269
Q

pathogenesis of Herpes Simplex Encephalitis (2)

A
  • defect in TLR3 pathway
  • marked decrease in fibroblasts’ ability to produce IFN alpha and beta in response to HSV1
270
Q

genetic mutation and characteristics of Herpes Simplex Encephalitis (4)

A
  • TLR3 (AD), UNC93B1 (AR)
  • predominant susceptibility to viral infections
  • usually between 3-6yo
  • TLR3 def = severe pulm influenza and VZV infections
271
Q

genetic mutation and characteristics of IFNgamma R1/2 def (3)

A
  • AR
  • serious disseminated BCG and mycobacterial infections
  • infections with Salmonella, Listeria and viruses
272
Q

genetic mutation and characteristics of Tyk2 def (5

A
  • TYK2
  • AR
  • susceptible to Salmonella, and viruses
  • multiple cytokine signaling defect
  • +/- high IgE
273
Q

genetic mutation and characteristics of ISG15 def (3)

A
  • AR
  • brain calcifications
  • defect in IFN gamma production –> susceptibility to mycobacterial infections `
274
Q

recurrent HSV, HPV and mycobacterial infections - lab findings and genetic defect (4)

A
  • low Cd16 by flow, dec NK function (Classical NK cell def)
  • GATA2, MCM4
275
Q

recurrent HSV infections - lab findings and genetic defect (3)

A
  • normal CD16 by flow
  • dec NK function (functional NK cell def)
  • FCRG3A (CD16) mutation. — C16/FcgRIII = low affinity IgG receptor
276
Q

X linked complement deficiency

A

properdin deficiency

277
Q

characteristics of C3 LOF deficiency (4)

A
  • AR
  • recurrent pyogenic infections
  • absent CH50 and AH50
  • defective opsonization and humoral response
278
Q

double vs single-allelic CCR5delta32 mutation

A
  • double = almost resistant to HIV infection
  • single = slower progression
279
Q

HIV coreceptor tropism (2)

A

CCR5 - on monocytes/MO
CXCR4 - on T cells

280
Q

three main mechanisms of Cd4 lymphopenia in HIV

A
  • direct viral killing of infected cells (cytopathic effect)
  • increased apoptosis of infected cells
  • killing via HIV specific CTLs
281
Q

drug interactions with Ritonavir

A
  • increase inhaled and intranasal steroids to systemic level
  • Ritonavir is a strong inhibitor of CYP3A4 and CYP2DG (protease inhibitor)
282
Q

HIV medication that binds to CCR5

283
Q

Integrase strand transfer inhibitors (INSTI) MOA and names

A
  • inhibit viral DNA integration into host DNA
  • Raltegravir, elvitegravir (~tegravir)
284
Q

nucleotide or nucleoside reverse transcriptase inhibitors (NRTIs) MOA and names (6)

A
  • incorporated into the newly synthesized viral DNA to terminate the DNA strand
  • tenofovir, emtricitabine, abacavir, lamivudine, zidovudine
285
Q

non-nucleoside reverse transcriptase inhibitors (NNRTIs) MOA and names (6)

A
  • bind directly to reverse transcriptase and inhibit its function
  • efavirenz, nevirapine, rilpivirine, etravirine, doravirine
286
Q

protease inhibitors MOA

A
  • inhibit HIV protease –> prevent final viral life cycle of maturation
287
Q

screening test to be performed before starting abacavir and why

A
  • HLA-B*5701
  • risk of severe anaphylaxis
288
Q

what is immune reconstitution inflammatory syndrome?

A
  • paradoxical worsening in clinical status, usually 4-8 weeks after starting ART
  • due to reactivation of immune system (cytokine storm) against existing opportunistic infections when CD4 rapidly increases
  • most commonly due to TB and PCP
289
Q

indications for starting fluconazole ppx (3)

A
  • CD4 <250 AND living in endemic area for coccidiodes AND +IgM/IgG serologies
290
Q

indications for starting itraconazole ppx (2)

A
  • CD4<150 AND living in endemic area for histoplasmosis
291
Q

indications for MAC ppx and meds (4)

A
  • CD4 <50
  • Azithromycin
  • Clarithromycin
  • Rifambutin
292
Q

indications for PCP ppx and meds (4)

A
  • CD4 <200 or CD4<14% + thrush, AIDS illness, FUO
  • TMP-SMX
  • Dapsone +/- Pyrimethamine
  • Atovaquone
293
Q

indications for Toxoplasma ppx and meds (4)

A
  • Cd4 <100 AND positive toxo IgG
  • Bactrim
  • Dapsone + pyrimethamine + leucovorin
  • Atovaquone +/- pyrimethamine
294
Q

three important cytokines in EoE

A
  • IL-5, IL-13, eotaxin-3 (CCL26)
  • CCL26 binds to CCR3
295
Q

normal # of eos in the intestine ((7)

A
  • esophagus = 0
  • stomach ~2
  • duodenum ~10
  • ileum ~12
  • cecum ~20
  • transverse colon ~16
  • sigmoid colon ~8
296
Q

cardiac damage is more common in which subtype of HES?

A

PDGFRA-associated HES (myeloproliferative)

297
Q

myeloproliferative HES - clinical features (3)

A
  • hepatosplenomegaly
  • almost exclusively in males
  • highest risk for cardiac complications
298
Q

myeloproliferative HES - lab findings (5)

A
  • high serum B12
  • may have high tryptase + mast cell abn
  • anemia and/or thrombocytopenia
  • circulating leukocyte precursors
  • dysplastic eosinophils
299
Q

myeloproliferative HES - Abn/examples (5)

A
  • PDGFRB and FGFR1 rearrangements
  • JAK2 mutation
  • chronic eosinophilic leukemia
  • deletion on 4q12 –> FIP1L1-PDGFRA fusion
  • sensitive to imatinib
300
Q

lymphocytic HES - clinical features (2)

A

prominent skin findings and may progress to T cell lymphoma

301
Q

lymphocytic HES - lab (5)

A
  • polyclonal
  • Hypergammaglobulinema
  • high serum IgE and TARC(CCL17)
  • abn T cell immunotyping
  • clonal TCR rearrangement
302
Q

lymphocytic HES - abn/examples (2)

A
  • aberrant IL-5 producing T cells
  • Cd3- CD4+ T cells
303
Q

familial HES - clinical features (3)

A
  • AD
  • asymptomatic eosinophilia from birth
  • disease manifestation is variable
304
Q

familial HES - lab (1)

A

mapped to 5q 31-33

305
Q

idiopathic HES - clinical findings (3)

A
  • multisystem involvement
  • signs and sx vary
  • etiology remains undefined
306
Q

organ-restricted (Overlap) HES - lab (1)

A

peripheral blood eosinophilia

307
Q

organ-restricted (Overlap) HES - abn/ex (3)

A
  • EGID
  • chronic eosinophilic PNA
  • Well’s syndrome
308
Q

idopathic HES -

309
Q

initial therapy for HES except for M-HES and L=HES

310
Q

first line for M-HES

A

tyrosine kinase inhibitor - Imatinib

311
Q

Imatinib works well for pts with which genetic mutation for HES?

A

FIP1L1-PDGFRA rearrangement

312
Q

first line for HES pt with cardiac involvement

A

imatinib + steroids

313
Q

biologic approved for HES

A

mepolizumab

314
Q

mast cells are identified by immunohistochemical staining for? (2)

A

CD117 (kit) and tryptase

315
Q

co-expression of CD2 and/or CD25 indicates

A

neoplastic Mast cells

316
Q

WHO criteria for systemic mastocytosis (5)

A

1 major + 1 minor OR 3 minors
- Major = biopsy with multifocal, dense infiltrates of mast cells (>15 MC in aggregates)
- biopsy with >25% of MC with spindle-shaped or atypical morphology
- detection of kit D816V mutation (in BM or other extracutaneous organs)
- expression of CD2 and/or CD25 on CD117+ MC
- total serum tryptase >20

317
Q

clinical difference between defective extracellular TLR vs endosomal TLR

A
  • endosomal TLRs (ex TLR3) lead to HSV encephalitis
  • extracellular TLRs – invasive pyogenic bacterial infection
318
Q

In granulomatosis with polyangiitis, which pattern of cytokine production is increased in response to environmental stimuli and contributes to granuloma formation?

A

Th1 and Th17 cytokines (IL-17, TNF, and IFN-γ).

319
Q

which small vessel vasculitis lacks granuloma formation?

A

microscopic polyangiitis

320
Q

A 50-year-old White man with vasculitis is diagnosed with mononeuritis multiplex. Which syndrome does this patient likely have?

A

Churg- Strauss Syndrome
- asthma, allergic granulomatosis, and vasculitis.
- peripheral eosinophilia

321
Q

lab features of Ehrlichiosis (4)

A
  • leukopenia with left shift
  • low plt
  • high LFTs
  • peripheral smear looking at intraleukocytic morulae is diagnostic
322
Q

clinical features of leprosy (2)

A
  • hypopigmented or red patches with associated peripheral neuropathy
  • also involves upper respiratory tract and eyes
323
Q

conjunctivitis with otitis media is most likely caused by which organism?

A

non typeable Haemophilus

324
Q

nasal polyps in which pt populations are more neutrophilic than eosinophilic? (2)

A

Asian and CF pts

325
Q

PGE2 levels in CRS with and without nasal polyps (2)

A
  • CRSsNP = high
  • CRSwNP = low
326
Q

what kind of sinusitis is surgical emergency and need ENT referral immediately?

A

isolated sphenoid sinusitis

327
Q

SLE diagnosis mnemonic

A

SOAP BRAIN MD

328
Q

genetic risk factors of SLE (3)

A
  • HLA-DR2/3
  • early complement deficiencies (C1,2,4)
  • FcgRII/III polymorphisms
329
Q

difference in pathophysiology bw polymyositis vs dermatomyositis

A
  • poly: cell mediated damage with primarily C8 cells. NOT Ab mediated
  • dermato: Ab-mediated complement attack.
330
Q

biopsy of inclusion body myositis (2)

A
  • basophilic rimmed vacuoles + characteristic filamentous inclusions and vacuoles
331
Q

autoAb seen in scleroderma (4)

A
  • anti-endothelial Ab
  • anti-centromere Ab (good prognosis if positive)
  • anti-scleroderma Ab
  • anti-RNA polymerase III
332
Q

Clinical presentation - Chediak Higashi syndrome (5)

A
  • oculocutaneous albinism
  • recurrent infections
  • bleeding tendency
  • neurologic defects
  • associated with increased risk of HLH
333
Q

genetic mutation - Chediak Higashi syndrome

A

CHS1/LYST (lysosomal trafficking protein)

334
Q

lab findings - Chediak Higashi syndrome (5)

A
  • big azurophilic lysosomal granules in neutrophils and eosinophils
  • neutropenia
  • decreased neutrophil chemotaxis
  • absent NK cell activity
  • unevenly distributed larger melanin granules on hair shaft
335
Q

Clinical presentation - Griscelli syndrome (6)

A
  • hypopigmentation
  • immune deficiency
  • thrombocytopenia
  • neurologic defects
  • inc risk of HLH
  • similar to CHS, but has large clumps of pigment in hair shafts, instead of evenly distributed large melanin granules. also no ocular albinism
336
Q

genetics - Griscelli syndrome

A

RAB27A (GTP binding protein)

337
Q

lab finding - Griscelli syndrome

A

large clumps of pigment in hair shafts that appears uniformly white

338
Q

Clinical presentation - Hermansky Pudlak syndrome (5)

A
  • oculocutaneous albinism
  • bleeding due to plt storage pool def
  • pulmonary fibrosis
  • granulomatous colitis
  • associated with HLH
339
Q

genetics - Hermansky Pudlak syndrome (2)

A

HPS1-8, PLDN

340
Q

genetics - familial HLH (4)

A

PRF1 (perforin)
UNC13D
STX11
STXBP2

341
Q

screening test for familial HLH (2)

A

perforin and Cd107a (marker of NK cell degranulation) flow cytometry

342
Q

Clinical presentation - X linked immunodeficiency with Mg defect, EBV infection and neoplasia (XMEN) (7)

A
  • chronic high level EBV infection
  • recurrent sinopulmonary infections
  • epiglottitis
  • diarrhea
  • cytopenias
  • lymphoproliferation
  • lymphoma
343
Q

genetics - X linked immunodeficiency with Mg defect, EBV infection and neoplasia (XMEN)

A

MAGT1 (LOF in Mg transporter 1)

344
Q

lab - X linked immunodeficiency with Mg defect, EBV infection and neoplasia (XMEN) (3)

A
  • Cd8 > CD4
  • CD4 cell lymphopenia
  • high double negative T cells
345
Q

Clinical presentation - X linked lymphoproliferative disorder type I (2)

A
  • fulminant EBV mononucleosis with dysgammaglobulinemia
  • lymphoma: B cell/Burkitt’s. classically ileocecal
346
Q

genetics - - X linked lymphoproliferative disorder type I

A

SH2D1A (SLAM associated protein, an activator of NK and T cells)

347
Q

pathophys - X linked lymphoproliferative disorder type I (3)

A

failure to eliminate EBV infected B cells –> prolonged Ag presentation –> hyperactivation of CTL and MO

348
Q

Clinical presentation - X linked lymphoproliferative disorder type II (2)

A

enterocolitis, dysgammaglobulinemia

349
Q

genetics - X linked lymphoproliferative disorder type II

A

XIAP (protein that protects cells from apoptosis)

350
Q

pathophys - X linked lymphoproliferative disorder type II

A

increased susceptibility to apoptotic stimuli

351
Q

clinical presentation - CD27 deficiency (4)

A
  • severe EBV infection
  • uveitis
  • recurrent infection
  • Hodgkin lymphoma
352
Q

genetics - CD27 deficiency

A

TNFRSF7 (missense mutation leading to reduced CD27 expression)

353
Q

lab - CD27 deficiency (2)

A
  • T cell dysfunction
  • impaired T cell-dependent B cell responses
354
Q

clinical presentation - ALPS (5)

A
  • autoimmune cytopenias
  • other autoimmunity
  • generalized LAD
  • HSM
  • inc risk of lymphoma and other malig
355
Q

genetics - ALPS (3)

A

FAS (TNFRSK6)
FASLG (TNFRSF6)
CASP 10

356
Q

labs - ALPS (5)

A
  • high DNT (CD3+, Cd4/8-)
  • defective lymphocyte apoptosis
  • hypERgammaglobulinemia
  • high Vit B12
  • high IL-10
357
Q

clinical presentation - Autoimmune polyglandular syndrome type I (APS-1 or APECED)

A
  • chronic mucocutaneous candidiasis
  • dystrophic nails
  • enamel hypoplasia
  • endocrinopathies
358
Q

autoAb that is highly sensitive and specific for APS-1 or APECED

A

anti-IFN omega Ab

359
Q

clinical - APS-2

A
  • Addison’s dz (100%)
  • autoimmune thyroid dz
  • T1DM
360
Q

genetics - APS2 (2)

A

HLA- DR3/4
polygenic dominant

361
Q

clinical - IPEX (7)

A
  • severe diarrhea, enteropathy
  • food allergy
  • T1DM
  • autoimmune cytopenias
  • variable skin lesions
  • severe infections
  • coronary artery dz
362
Q

genetics - IPEX

363
Q

initial tx for IPEX (2)

A

calcineurin inhibitor or mTOR inhibitor (sirolimus)

364
Q

clinical - CTLA 4 haploinsufficiency (6)

A
  • enteropathy
  • hypogamm
  • ILD
  • autoimmune cytopenias
  • LAD
  • lymphocytic organ infiltration
365
Q

lab - CTLA 4 haploinsufficiency

A
  • abn T cell activity
  • low B cell numbers but high autoimmune B cells
366
Q

tx - CTLA 4 haploinsufficiency (3)

A

IVIG
Abatacept (CTLA4-Ig fusion protein)
HSCT

367
Q

clinical - lipopolysaccharide-responsive and beige-like anchor protein (LRBA) deficiency

A

similar to CTLA-4 haploinsufficiency

368
Q

genetics - lipopolysaccharide-responsive and beige-like anchor protein (LRBA) deficiency

A

LRBA (recycles cellular components on the cell surface, including CTLA4)

369
Q

genetics

370
Q

clinical - STAT3 GOF (5)

A
  • autoimmunity
  • lymphoproliferation
  • recurrent infections
  • inc risk of malig (MDS, leukemia, aplasic anemia)
  • short stature
371
Q

lab - STAT3 GOF

A

low Treg population

372
Q

clinical - CD25 def (4)

A
  • similar to IPEX
  • severe enteropathy
  • FTT
  • recurrent infections
373
Q

clinical - IL-10 def (2)

A
  • severe VEO-IBD
  • inc risk of diffuse large B cell lymphoma
374
Q

associated genetic features of CLL (2)

A
  • overexpression of proto-oncogene Bcl-2
  • 13q deletion
375
Q

genetics - Burkitt’s lymphoma

A

c-myc gene translocation at 8q24

376
Q

what is Mycosis Fungoides (2)

A

mature T cell lymphoma that presents in the skin with rash-like patches. tumors or generalized erythroderma
- usually >50yo males

377
Q
  • pathology - Mycosis Fungoides (3)
A
  • atypical mononuclear cells with cerebriform nuclei (Sezary cells) in the upper dermis and epithelial keratinocytes
  • haloed lymphocytes
  • Pautrier microabscesses are pathognomonic but not often seen
378
Q

when to suspect Mycosis Fungoides

A

older pts with chronic nonspecific dermatitis or generalized erythroderma

379
Q

sx of multiple myeloma (4)

A

(CRAB mnemonic) Tetrad of hyperCa, renal failure, anemia and bone lesions

380
Q

pathology of Waldenstrom’s macroglobulinemia (3)

A
  • a malignant proliferation of terminally differentiated B cells –> high IgM
  • associated with chr.6 abn
  • associated with autoimmunity with autoAb, hepatitis, HIV and Rickettsiosis
381
Q

sx of Waldenstrom’s macroglobulinemia (7)

A
  • constitutional sx
  • pallor
    -oronasal bleeding
  • organomegaly
  • hyperviscosity
  • Abn coagulation
  • sensorimotor peripheral neuropathy
382
Q

diagnosis of Waldenstrom’s macroglobulinemia (2)

A
  • SPEP showing an M component with b-to-g mobility is highly suggestive
  • monoclonal IgM paraprotein, usually kappa
383
Q

pathology of Polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, skin abn (POEMS) syndrome (3)

A
  • multisystemic monoclonal plasma cell disorder
  • chronic overproduction of proinflammatory cytokines
  • almost always have osteosclerotic myeloma or Castleman’s disease
384
Q

which virus is implicated in Castleman’s disease?

385
Q

diagnosis of Polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, skin abn (POEMS) syndrome (2)

A
  • monoclonal paraprotein spike on SPEP
  • almost always lambda chain
386
Q

a1-globulins on immunofixation (3)

A
  • alpha-1 antitrypsin
  • thyroid binding globulin
  • transcortin
387
Q

A1- globulin on immunofixation (2)

A

haptoglobin and ceruloplasmin

388
Q

beta 1 globulin on immunofixation

A

transferrin

389
Q

B1 globulin on immunofixation (3)

A

beta lipoprotein, some IgGAM, complements

390
Q

between beta and gamma globulin on immunofixation (2)

A

CRP, fibrinogen

391
Q

gamma globulin on immunofixation

A

immunoglobulins

392
Q

normal pattern for serum protein electrophoresis

393
Q

alpha heavy chain disease - presentation(3)

A
  • mostly Middle Eastern or Mediterranean descent
  • severe diarrhea and weight loss due to infiltration of intestinal tract by cancerous plasma cells
  • a formal of MALT lymphoma
394
Q

alpha heavy chain disease - diagnosis (2)

A
  • SPEP normal in half of cases
  • a broad band may occur in the alpha2 or beta motility regions
395
Q

gamma heavy chain disease - presentation (2)

A
  • a lymphoma-like illness with lymphadenopathy, hepatosplenomegaly and B sx
  • associated with autoimmune dz
396
Q

gamma heavy chain disease - diagnosis (3)

A

-SPEP with a broad-based gamma band that migrates to the beta region
- immunoselection + immunophoresis
- eosinophilia is common

397
Q

mu heavy chain disease presentation (3)

A
  • palatal edema due to involvement of Waldeyer’s ring
  • hepatosplenomegaly
  • lymphadenopathy
398
Q

type I cryoglobulinemia presentation (3)

A
  • usually monoclonal Ig (IgM most common)
  • related to hyperviscosity and thrombosis
  • associated with plasma cell dyscrasias and multiple myeloma
399
Q

pathophysiology of TRALI (transfusion related aute lung injury)

A
  • donor leukocyte Ab are directed against recipient’s neutrophil Ag or HLA determinants
  • C5a is released, leading to pulmonary leukosequestration –> neutrophil activation
400
Q

warm vs cold AIHA

A
  • warm = by polyclonal IgG against RBCs
  • cold = IgM binds to I antigen (on all RBCs) at temp lower than room temp (37C)
401
Q

Evan’s syndrome (3)

A
  • simultaneous or sequential development of ITP and AIHA with positive DAT =/- autoimmune neutropenia
  • usually chronic and relapsing despite tx
  • associated with PIDs like CVID or ALPS
402
Q

pathophysiology of HIT (heparin induced thrombocytopenia) (2)

A

IgG Fab binds to the complex between heparin and PAF 4 (platelet factor 4)
- IgG Fc binds to plt FcIIa –> plt activation and consumption

403
Q

Mnemonic for TTP

A

FAT RN
- fever
- anemia (microangiopathic hemolytic)
- thrombocytopenia
- renal failure
- neurologic changes

404
Q

clinical features of Addison’s disease (6)

A
  • weakness, fatigue
  • orthostasis
  • salt craving
  • hyperpigmentation
  • Ab against 21-hydroxylase
  • associated with autoimmune polyglandular syndrome types 1 and 2
405
Q

T-B-NK+ (5)

A
  • RAG1/2
  • ARTEMIS
  • DNA ligase IV
  • DNA-PK
  • cerunnos
    (TCR and BCR recombination)
406
Q

T-B+NK+ (4)

A
  • IL7R
  • CD3 subunits
  • Cd45
  • thymic defects
407
Q

T-B+NK- (1)

408
Q

T-B-NK- (2)

A
  • toxic metabolites (ADA, PNP)
  • reticular dysgenesis (AK2, also with neutropenia)
409
Q

important cytokines in GVH

A
  • IL10, TNF a, IFN g
410
Q

common presentations of EGPA (3)

A

asthma, nasal and sinus symptoms, and peripheral neuropathy

411
Q

A 12-year-old boy with fulminant hepatitis due to EBV infection and pancytopenia has a defect in which gene?

A
  • SH2D1A gene
    A defective SLAM associated protein (SAP) causes X-linked lymphoproliferative syndrome (XLP)
412
Q

Which of the following B cell maturation steps is impaired in ataxia telangiectasia due to a mutation in the ATM gene?

A

Class switching.
(ATM is a DNA repair protein)

413
Q

Which IgG subclass does not play a role in complement activation?

A

IgG4.
- IgG1 and IgG3 strongly activate complement, and IgG2 weakly activates complement. IgG4 does not activate complement.

414
Q

Antibody-dependent cell-mediated cytotoxicity is triggered when an antibody bound to the surface of a cell interacts with which Fc receptor on the NK cell?

A

FcγRIII (CD16)

415
Q

What primary immunodeficiency is associated with defects in DNA-PKcs or Artemis?

A

Radiation sensitive SCID (T-B-NK+)
- due to defects in proteins involved in repairing DNA breaks.

416
Q

A 2 yr. patient presents with metallic-appearing hair, platelet dysfunction. He has presented multiple times for recurrent EBV infections with a severe infection that resulted in hemophagocytic lymphohistiocytosis (HLH). What mutation is most likely the cause of this presentation?

A

CHS1 mutation
- Chediak Higashi is a syndrome that is due to defect in vesicular transport proteins that needed for formation or exocytosis of melanosomes ( leads to partial loss of skin pigmentation), HLH and inability to clear EBV infections.

417
Q

Herpes Simplex blocks peptide association with MHC class I through what molecule?

A

Inhibition of peptide transport by TAP

418
Q

types of lupus associated with SSA-A/Ro and SS-B/La nuclear antigens (2)

A

Neonatal lupus
Subacute cutaneous lupus erythematosus

419
Q

What is the most likely mutation responsible for type II HAE?

A

Missense mutation in SERPING1 gene

420
Q

what medication other than ACEI is likely to cause angioedema?

A

~gliptin (sitagliptin, saxagliptin, linagliptin, and alogliptin) which is a DPP-4 inhibitor
- DPP-4 cleaves bradykinin

421
Q

ecallantide vs icatibant (3 each)

A
  • ecallantide needs to be given in a healthcare setting, >12 yo, SC
  • icatibant can be given at home, >18yo, SC
422
Q

HAE medication to avoid if sensitized to rabbit

A

Recombinant C1-INH (Ruconest) is a concentrate purified from rabbit breast milk.

423
Q

precaution when switching to ARB after angioedema due to ACEI

A

need to wait 6 weeks after the attack to start ARB

424
Q

bimodal peaks in Goodpasture’s syndrome

A

young smoking men and women in 50s-60s with renal disease

425
Q

pathogenesis of Goodpasture’s syndrome

A

anti-GBM antibody-mediated phagocyte and complement activation

426
Q

Goodpasture’s syndrome presentations (4)

A
  • acute nephritis with crescent formation and rapid renal failure
  • oliguria/anuria/hematuria
  • anemia
  • pulm hemorrhage can occur in pts with lung injury or smoking history
427
Q

Goodpasture’s syndrome diagnosis (2)

A
  • detection of circulating Ab against alpha3 chain of type IV collagen
  • can have p- or c-ANCA
428
Q

Which gene is most highly expressed in eosinophil trafficking pathway in EoE?

A

CCL26 (Eotaxin-3)
-pairs with the eotaxin receptor (CCR3) for homing of eosinophils to the GI tract in eosinophilic gastrointestinal disorders

429
Q

immunoglobulin levels found in WAS

A

high IgA/E, low IgM, normal IgG

430
Q

Features of TLR deficiency/defect (5)

A
  • AR
  • involves MYD88/IRAK4
  • susceptible to pyogenic bacterial infections
  • tends to improve with age
  • atypical: severe viral/fungal infections

A&I (10 decks)

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