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Clinical Immunology Flashcards

1
Q

newborn screening for SCID

A

T-cell receptor excision circles (TREC)

  • >99% sens for classic and hypomorphic forms of SCID
  • doesn’t screen for PIDs where normal amt of T cell receptors are created
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2
Q

CGD Management

A
  • follow ESR and radiographs
  • ppx antibiotics/antifungals: Bactrim, itra
  • ppx IFN-g 3x/wk
  • BMT or gene therapy
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3
Q

How to approach suspected T-cell defect:

A
  1. obtain lymphocyte subsets and ALC
  2. if ALC low in young age –> think SCID!!
  3. if ALC normal –> eval T-cell fxn (mitogens, Ags)
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4
Q

Dx of IFNgR deficiencye

A

genetics

flow cytometry

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5
Q

erythroderma

desquamation

organomegaly

eosinophilia

A

think Omenn syndrome

  • can be d/t hypomorphic SCID mutations (e.g. reduced CD3+ T cell, <30% T-cell function)
  • most often a/w RAG1/RAG2 defects
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6
Q

Complement Defects where AI disease is more common (SLE, DLE, etc)

A

C1-4 defects

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7
Q

What consider with disseminated NTM infections (or even with disseminated histo or cocci)

A

IFNgR deficiencies (AR more severe)

AR = complete defect, childhood, more severeAD = partial defect, later in life

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8
Q

most commonly implicated pathogens in complement deficiencies

A

encapsulated bacteria

  • S pneumo
  • H flu (type B)
  • N meningitidis
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9
Q

how to approach suspected phagocytic defect:

A
  1. CBC, ANC
  2. if low ANC - consider cyclic neutropenia, AI neutropenia, referral to heme for BMBx
  3. if normal ANC - think CGD (obtain DHR burst testing), LAD (CD11/CD18 flow)
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10
Q

Dx and Tx CVID

A
  • decreased IgG (total + subclass 1,3 or 2,4), IgA, IgM
  • decreased response to new/recall immunization

Rx: treat infections, Ig replacement

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11
Q

mechanism of CGD

A

NADPH oxidase defects –> inability to produce superoxide anions

*inflamed tissue around uncleared pathogen creates granulomas

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12
Q

PID w/ increased predisposition to invasive candidiasis

A

CARD9 deficiency - familial candidiasis

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13
Q

with high IgE, think:

A
  • Hyper IgE syndrome (Job’s)
  • DOCK18 deficiency
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14
Q

Infections commonly seen in Chediak-Higashi syndrome

A

recurrent cutaneous and sinopulmonary infections

  • GNR, staph, strep
  • (no fungi)
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15
Q

Antibody-dependent bacterial lysis complement pathway

Defic: recurrent bacteremia and meningitis

A

Classical Complement Pathway (C1-9)

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16
Q

Defects to consider when:

  • FTT
  • skin rash
  • diarrhea
  • OI at any age
A

T cell defects

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17
Q

very common PID in adults - presents with recurrent respiratory and GI infections

A

think CVID

  • low levels serum Igs, with decreased specific Ab response
  • be sure to exclude other causes of hypoIg (much more common than CVID) - rx-induced, infection, malignancy
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18
Q

Defects to consider when:

respiratory/GI sx after 1st few mos of lifeenterovirus meningoencephalitisrecurrent sinusitis, pnas, bronchiectasis

A

think B-cell defects (usually present after maternal Abs wane)

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19
Q

Complement Defect

recurrent neisseria BSI/meningitis

(typically 17yo, mild CNS)

A

C5-9 defects

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20
Q

thrombocytopenia (Decreased MPV)

eczema

recurrent infectionsoften with autoimmunity or malignancy

A

Wiskott-Aldrich syndrome

d/t mutations in WAS protein (WASP)

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21
Q

hyper IgE (97% >2000)

eosinophilia (93% >2SD)

A

think HIE

no correlation b/w IgE and eos)

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22
Q

essential cells for killing of fungi

A

phagocytes (neuts, monos, macrophages, eos, basos)

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23
Q
  • teen/adult onset
  • recurrent HPV infections
  • disseminated NTM (esp mediastinal M kansasii)
  • pancytopenia: w/ profound monocytopenia - low B, low NK)
  • CT - subpleural blebs
A

think GATA2 deficiency

Dx: genetics, hypocellular marrow

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24
Q

Deficiency responsible for leukocyte adhesion deficiency 1

A

CD18 → loss of integrins

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25
Primary immunodeficiencies a/w increased predisposition to EBV
\*\*Chronic EBV viremia, EBV-assoc lymphoproliferative d/o * ITK def * MAGT1 def * STK4 def * CD27 def * Coronin-1A def
26
lab definition of SCID
* T-cell count \<300 + * absence of T-cell response to mitogens (\<10% compared w/ control)
27
Diagnostic tests for complement defects
**C**H50 - **C**lassical **A**H50 - **A**lternative
28
Eczema **allergies** asthma High IgE **HPV, HSV, molluscum** Candida, crypto, histo pseudomonas
think DOCK8 deficiency (more GN and more viral infections than with Job's) **recalcitrant, severe HPV** also think with NTM *\*\*does not have other features of Job's: retained teeth, path fx, pneumatoceles*
29
_Defects to consider when:_ Cellulitis w/o pus granulomas IBD liver abscesses prolonged attachment of umbilical cord
phagocytic defects
30
SCID megaloblastic anemia atypical HUS (sometimes)
think methylenetetrahydrofolate dehdyrogenase def (MTHFD1)
31
Most common Ig deficiency
IgA ## Footnote not often detected, not a/w disease (though can be a/w other deficiencies like CVID and other Ig subclass deficiencies)
32
Confirm dx of IFNgR1 deficiency
show high IFNgR1 on cell surfaces (truncated, so can't be taken off)
33
When to consider hyper IgE (HIE) Job's syndrome
* recurrent **sinopulmonary** infections (SA, SP, H flu) * **post-infections pulm cyst formation** * recurrent SA skin abscesses * characteristics: facies, eczema, **scoliosis**, path fx * very elevated **IgE** (\>2000), **eosinophilia** * Mutation of **STAT3**
34
most common presentation of CD40 ligand deficiency
**PJP pneumonia** ## Footnote _other common_: cryptosporidium, cryptococcus GI disease (diarrhea, liver dysfunction) high risk of lymphomas, liver cancers
35
Infections in chronic granulomatous disease
Catalase-positive bacteria Fungi --\> Tissue granuloma formation
36
common infections seen with CVID
* recurrent sinu-pulm infections * chronic enteric infections (giardia, campy, salmonella, shigella) * severe echoviral meningitis/encephalitis, myositis
37
screening labs for **phagocytes**
**DHR** - for superoxide **FACS** - CD18, CD11a-c, IFNgR1, IL-12RB1
38
associated with antibody-negative pulmonary alveolar proteinosis (PAP)
GATA2 deficiency
39
PIDs with increased predisposition to mycobacterial infections
* IL12 deficiency * IL23 deficiency * IFNgR deficiency
40
* Teeth loss, gingivitis * Impaired wound healing * Dystrophic "cigarette paper" scars * Delayed umbilical stump separation * Often no purulence seen * (bx w/o neutrophils at site of infection)
think LAD1
41
neutropenia, splenomegaly + often RA
**Felty syndrome** * GOF in STAT3 * large granular lymphocytosis
42
How to approach suspected B-cell defects
1. obtain lymphocyte subsets and ALC 2. if low ALC - ?combined ID - target T-cell eval 3. if normal ALC - obtain B-cell number, quant Igs, Ab response to vaccines * absent B cell early age - think XLA * abnormal number/function - XLA, hyperIgM syndromes, CVID * adult onset - CVID
43
Infections common with LAD1
* recurrent necrotizing infections: skin, perineum, lung, gut * GPC, enteric GNR (NOT fungal) \*\*will have baseline leukocytosis (sometimes as high as 100 with infection)
44
high IgM low/absent IgG, IgA, IgE
**CD40 ligand deficiency** * CD40 ligand expressed on activated CD4 T cells (CD40 on B-cells) * --\> CD4+-deficient patients (CD4 cells non-functioning) * interaction required for B cell survival, growth, differentiation (IgM not able to class-switch)
45
* Eczema * Abnormal facies (increased nasal width) * recurrent boils * recurrent PNA --\> pulmonary cysts * scoliosis * delayed dental deciduation * coronary artery aneurysms * pathologic fractures
**think HIE (Job's) syndrome** ## Footnote \*pulmonary cysts will form after infection, even with adequate tx -- often get 2ary infected
46
giant granules in neutrophil
**Chediak-Higashi syndrome** ## Footnote (mutations in Lyst - cause giant primary and fused secondary granules within the cytoplasm of neutrophil)
47
Diagnosis of CGD
**_Preferred_**: PMN DHR (dihydrorhodamine 123 oxidation) PMN nitroblue tetrazolium reduction (NBT) -- results from failure to produce superoxide and its metabolites
48
most common severe PID
SCID (1/60k live births) results from many different genetic defects
49
recurrent sino-pulmonary bacterial infections
CVID
50
Complement Pathway with Ab INdependent bacterial lysis Defic: severe disease
Alternative Pathway (Factors I, H, properdin, C3) --\> protects before Abs enter the picture
51
infections a/w CGD
**nearly pathognomic = infections with rare catalase+ orgs:** * granulibacter bethesdensis * chromobacterium * francisella burkholderia nocardia aspergillus (look for in non-neutropenic pt)
52
PIDs with increased predisposition to chronic mucocutaneous candidiasis
* IL-17 deficiency * autoimmune polyendocrine candidiasis ectodermal dystrophy (APECED) - CMC, Addison, hypoparathyroid, metaphyseal dysplasia
53
PIDs with increased predisposition to HPV
* epidermodysplasia verruciformis - disseminated flat, wart-like papules * CXCR4 def - myelokathexis (retention of neuts in bone marrow) + hypoIgs + warts * **DOCK8** def - hyperIgE + eos, severe viral skin infections * GATA2 def - not as much as DOCK8. monocytopenia, NK def, pulmonary alveolar proteinosis
54
Criteria for HLH
(5 of 8 required) \*prolonged, excessive activation of AP and cytotoxic cells d/t inability to clear inciting pathogen --\> cytokine storming * fever * SM * cytopenias (Hgb\<9, plt \<100, ANC \<1K) * TG \>265 * fibrinogen \<150 (low) * ferritin \>500 * IL-2 receptor (\>2400) - marker of T-cell activation * low/absent NK activity * hemophagocytosis on path
55
* disseminated NTM later in life * female * East Asian (born there)
Anti-IFNg autoantibody syndrome Dx w/ autoAb detection
56
common clinical manifestations of Chediak-Higashi
* Infections (Bacterial, not fungal) * Mild neutropenia (d/t intramedullary destruction) * Partial oculocutaneous albinism * Mental retardation * Neuropathy * Lymphoma/HLH-like phase
57
PIDs with increased predisposition to cryptosporidium
IL-21 receptor def - chronic cholangitis and cirrhosis d/t prolonged cryptosporidium infection
58
Only part of immune system to control aspergillosis
* phagocytes (neuts, monos, macrophages, eos, basophils) * In otherwise normal host = aspergillosis means phagocytic defect
59
dx/tx Chediak-Higashi
**_Dx_**: giant blue granules w/in neut Mutation in CHS1 (encodes Lyst) **_Rx_**: bacterial ppx (Bactrim), tx infections, ?BMT
60
_Defects to consider with:_ * strep, neisseria infections * rheumatoid disorders
complement deficiencies

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