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CMOD > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

Asplenia increases susceptibility to

A

encapsulated bacteria

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2
Q

asplenic pt.s should be counseled to…

A
  1. receive vaccines for encapsulated bacteria

2. take antibiotics prophylactically in they begin to experience symptoms of respiratory infection

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3
Q

Dx of NK cell deficiency

A

flow cytometry

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4
Q

Viral susceptibilities with NK defects

A

varicella zoster
herpes virus
cytomegalovirus
epstein-barr virus

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5
Q

Bacterial susceptibilities with NK defects

A

mycobacterium (opportunistic pathogens)

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6
Q

fungal susceptibilities with NK defects

A

trichophytan

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7
Q

NEMO deficiency…

A

defect in protein IKKgamma required for NFkB–> leads to lack of expression of cytokine/chemokines and leads to increases susceptibility of infection

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8
Q

Defects in NFkB signaling affect which cell signaling path way

A

(INNATE SIGNALING PATHWAY)–> via TLR’S

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9
Q

Susceptibilities associated with NEMO

A

recurrent bacterial and viral infections

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10
Q

Tx for NEMO

A

bi-weekly injections of gamma globulin from a healthy donor; bone marrow transplant

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11
Q

LAD deficiency

A

defect in CD18 (subunit of LFA-1) that results in defective migration of phagocytes into tissues

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12
Q

LAD def. –> susceptible to

A

encapsulated bacteria

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13
Q

clinical indicator of LAD deficiency

A

delayed sloughing of umbilical cord

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14
Q

CGD is caused by

A

defective NADPH oxidase and inability to perform the oxidative burst–> cannot make toxic ROS’s

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15
Q

CGD leads to

A

chronic granuloma formation –> inability to kill phagocytosed bacteria
(chronic bacterial and fungal infections)

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16
Q

Glucose 6 phosphate dehydrogenase deficiency

A

defective G6-P leading to impaired oxidative burst–> very similar effects as CGD

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17
Q

MOP deficiency

A

inability to make HOCL–> ineffective bacteria killing

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18
Q

Chediak Higashi syndrome

A

defective vesicle fusion–> recurrent/ persistent bacterial infections and formation of granulomas

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19
Q

Neutropenia (basic definition)

A

low neutrophil count

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20
Q

susceptibilities with neutropenia

A

bacterial infections especially normal flora microbes

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21
Q

Cause of severe congenital Neutropenia (kostmann syndrome)

A

AR defects in GM-CSF or its receptor GM-CSFR

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22
Q

Cause of cyclic neutropenia

A

defect in the gene that encodes elastase (ELA-2)

this disease is cyclic every 2-4 weeks and alsts about a week

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23
Q

Neutropenia causes

A

elevated levels of ALL ANTIBODY ISOTYPES

*continued activation of B cells–> infections never really gets cleared

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24
Q

Primary immunodeficiencies with associated neutropenias

A

X linked hyper IgM
X linked agammaglobulinemia
WHIM syndrome
Griselli syndrome

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25
Q

In general defects in any of the compliment proteins will lead to?

A

susceptibility to extracellular bacteria

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26
Q

In general, defects in compliment regulatory proteins can cause? (2)

A

susceptibility to encapsulated bacteria (loss of C3)
or
autoimmune-like disease–> compliment destroys RBC’s via excessive MAC formation

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27
Q

Defects of components C5-C9 leads to susceptibility to

A

Neisseria

*no MAC formation

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28
Q

Deficiencies of C1, C2, C4

A

Immune complex disease–> small immune complexes created by antibody binding to its antigen is usually further opsonized by activation of the classical compliment cascade, promoting uptake and destruction of these small immune complexes

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29
Q

C3 defects lead to

A

susceptibility to encapsulated bacteria

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30
Q

Factor D, properdin factor P defects lead to what immune susceptibility?

A

susceptibility to encap. bacteria and Neisseria, but no immune complex disease

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31
Q

Factor I

A

reduced cleavage of C3b of C4b

*similar to C3 deficiency bc the result is depletion of C3

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32
Q

DAF and CD59 deficiencies lead to –>

A

paroxysmal nocturnal hemoglobulinemia

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33
Q

Paroxysmal Nocturnal Hemoglobulinemia is caused by

A

defects in GPI glycosylphosphatidylinositol

  • DAF and CD59 cannot bind to host cell membrane and therefore cannot prevent the MAC from forming in the Host Cell–> RBC’s lyse
  • a form of hemolytic anemia
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34
Q

CINH deficiency

A

HANE–> buildup of anaphylatoxins

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35
Q

MBL deficiency causes

A

inability to activate the lectin pathway ( a secreted PRR)–> leads to sever bacterial infections (acute phase response in hindered)

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36
Q

clinical presentation for MBL deficiency

A

pt.’s experience recurrent severe infections

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37
Q

C1 INH controls

A

spontaneous activation of C1 that always occurs–> w/o the inh. the system will constantly run and anaphylatoxins will buildup

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38
Q

Tc for C1inh defiiency

A

monthly injections of C1INH

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39
Q

a rare, acquired, potentially life-threatening disease characterized by complement-induced intravascular hemolytic anemia, red urine (due to hemoglobin in the urine), and thrombosis

A

Paroxysmal Nocturnal Hemoglobulinemia

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40
Q

CD59 and DAF requires

A

surface expression of GPI anchor

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41
Q

Tx for PNH

A

allogenic bone marrow transplantation is the only cure

*Compliment component C5 specific monoclonal Ab “eculizumab”–> aids in reducing thrombosis but is not curative

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42
Q

Inherited Antibody deficiencies

A 
X-linked agammaglobulinemia (XLA)
Pre-B Cell receptor (lambda 5)
X-linked hyper IgM syndrome
selective IgA
selective IgG
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43
Q

Antibody deficiencies lead to…

A

susceptibility to extraceullular bacteria, especially encapsulated bug that are resistant to phagosytosis

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44
Q

Dx for Ab def.

A

monthly injections of gamma globulin from healthy donor

*all forms are susceptible to extracellular bateria and virions )unable to neutralize

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45
Q

XLA is cause by

X linked agammaglobulinemia

A

defect in B cell development
*defective BTK–> no signal transduction in the bone barrow–> improper B cell development/ B CELLS DONT SURVIVE BONE DEVELOPMENT

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46
Q

Do pt.s with XLA have a humoral immune system

A

HELL NAW

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47
Q

Pre-BCR (lambda 5) deficiency is from

A

mutation of lambda 5 gene (so chromosome 22)
–> non-functional surrogate light chain which result sin the inability of developiong B cells to produce a proper BCR–> they all undergo apoptotic death in germinal centers

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48
Q

X linked Hyper Igm is caused by?

A

defect in CD40 or CD40L or AID

49
Q

defect in CD40L (defect in helper T cell function)–> results in

A

B cells and macrophages cannot receive the second signal of activation

50
Q

AID deficiency results in

A

no isotype switching or somativ hypermutation

51
Q

which is more desirable AID or CD40 deificiency

A

AID–> still be able to produce and activate effector T cells that could supply the second signal of activation

52
Q

antibodies produced in some one with X linked hyper Igm syndrome

A

almost all of them will be IgM and the Igm levels will be lower than in some one who is immunocompetent

53
Q

“Those individuals who cannot activate B cells will not have…”

A

germinal centers in secondary lymphoid tissues

54
Q

Selective IgA deficiency cause?

A

unknown, likely heterogenous

55
Q

Most pt.’s with Selective IgA are healthy until

A

exposed to parasite pathogens

56
Q

People with Selecitve IgA deficiency are at risk of producing…
*they do not make any IgA

A

IgA-specific hypersensitivity fllowing blood transfusions

life threatening anaphylactic response

57
Q

Selective IgG deficiency cause?

A

unknown, likely heterogenous

58
Q

Most rare, yet important IgG deficiency

A

IgG1–> susceptible to many bacterial pathogens

* all subtypes of IgG can be deficienct

59
Q

content of IgG circulating in adult blood that is IgG1

A

60-70%

*20-30% is IgG2

60
Q

the most common immunodeficiency

A

Common Variable Immunodeficiency

61
Q

common features of CVID

A

a group of 150 primary immunodeficiencies that have common features including:
HYPOGAMMAGLOBULINEMIA reduced ab levels (but all different etiologies)

62
Q

clinical presentation of CVID

A

recurring infections mainly bacterial and/or viral pathogens involving ears, eyes, sinuses, nose bronchi, lungs skin, Gitracts, joints, bones, CNS, parotid glands etc

63
Q

hypogammaglobulinemia means

A

low serum levels of gamma glonulins

* a subset of which is antibodies

64
Q

CAUSES of CVID are usually ______ but do not appear until ______

A

genetic

2nd or 3rd gnerations of life

65
Q

clinical triad for Ataxia telangiectasia

A 
cerebellar defects (ataxia)
spider angiomas (telengiectasia)
IgA of IgE deficiency
66
Q

prenatal finding associated with AT

A

elevated AFP

67
Q

Cause of AT

A

inherited defect in ATM gene ( a gene that encodes DNA repair enzyme)

68
Q

Ataxia Tangleictasia can result in….

A

B and T cell deficiencies
Low numbers if lymphocytes (especially T cells)
Very low levels of IgA and IgE (mostly IgA)

69
Q

IL-12 signaling deficiency results in

A

inability to generate TH1 responses

inability to fully activate macrophages

70
Q

IL-12 deficient pt.’s make much less

A

IFN gamma

71
Q

Clinical presentation of IL-12 deficient pt.’s

A

recurrent susceptibility to disseminated mycobacterial infections

72
Q

hyper IgE syndrome is also known as

A

Job’s Syndrome

73
Q

What causes Job’s syndrome

A

genetic deficiency of STAT-3 function that results in reduced production of IFN gamma by TH1 cells and neutrophils that fail to respond to chemotactic signals

74
Q

Two syndromes that cause

  1. very little IFN gamma production
  2. inability to activate TH1 responses
A
  1. IL-12 signaling deficiency

2. Hyper IgE/Job’s syndrome

75
Q

Clinical findings of Job’s syndrome

A
  1. high Ige in blood
  2. eczema
  3. Recurrent abcesses with Staph aureus
  4. coarse facial features
    FATED
    facies, abcesses, retained primary teeth, IgE, Dermatologic problems
76
Q

Hyper Ige polarizes immune responses toward

A

TH2 phenotype–> leads to increases IgE

77
Q

Chronic mucocutaenous candidiasis Cause

A

T cell dysfunction, undefined cytokine deficiency

78
Q

Clinical presentation of Chronic Mucocutaneous Candidiasis

A

persistent superficial infection of the skin, mucous membranes, and nails with candida organisms

79
Q

CD8 dysfunction can be caused by

A

TAP transporter deficiency
CD8 alpha chain defect
Non-Sense mutation of perforin

80
Q

TAP defects result in

*sometimes calles BARE LYMPHOCYTE SYNDROME (MHC CLASS 1)

A

low levels of MHC 1 molecules
defective responses to intracellular pathogens
VERY LOW NUMBER OF CD8 T CELLS BECAUSE FEW ARE POSITIVELY SELECTED IN THYMIC DEVELOPMENT

81
Q

CD8 ALPHA CHAIN DEFECT

A

SAME PHENOTYPE AS TAP DEFECTS

*HIGHLY SUSCEPTIBLE TO INTRACELLULAR BACTERIA

82
Q

non-sense mutation of perforin causes

A
  1. dramatically or totally reduced CTL activity
  2. pt.’s have NORMAL numbers of CD8 t cells
  3. CTL’s are unable to induce programmed cell death
83
Q

Perforin mutations also affect which cell type

A

NK cells

84
Q

Defect in CD4 T cell function can result in______

A

SCID phenotype

* b cell responses require an effector t cell for activation

85
Q

CD4 t cells are important to ____ mediate and _____ mediate immune responses

A

antibody

cell-mediated

86
Q

Bare Lymphocyte Syndrome (SCID)

A

lack of expression of MHC II

*unable to mount cd4 responses or B cell responses

87
Q

Wiskott-Aldrich Syndrome (WAS)

SCID PHENOTYPE

A

defect in cytoskeletal reorganization that is required for T cells to deliver cytokines and other signals to B cells and macrophages

88
Q

causes cell-crosstalk deficiency

A

Wiskott-Aldrich Syndrome

89
Q

Adenosine Deaminase or Purine nucleotide phosphorylase deficiency both result in (SCID)

A

accumulation of toxic nucleotide catabolites that kills all lymphocytes during their development

90
Q

COmmon Gamma chain deficiency results in

SCID

A 
FAILURE OF T CELLS TO PROLIFERATE
NO T CELLS OR B CELLS
-->Gamma chain is signaling component of 
IL2, 4, 7, 9, 15
--> gamma chain interacts with JAK3
91
Q

JAK 3 DEFICIENCY

A 
FAILURE OF T CELLS TO PROLIFERATE
NO T CELLS OR B CELLS
-->Gamma chain is signaling component of 
IL2, 4, 7, 9, 15
--> nteracts with GAMMA CHAIN
92
Q

T CELL GROWTH FACTOR

A

IL2

93
Q

B CELL GROWTH FACTOR

A

IL7

94
Q

CD3 DEFICIENCY RESULTS IN

SCID

A

no CD4+ or CD8+ T cells; no T cell function:.

95
Q

CD3 DEFICIENCY CAN RESULT FROM

A

nonfunctional CD3 delta, epsilon, or zeta chain

96
Q

DiGeorge syndrome results from

A

small deletion in chromosome 22 (q11.2

97
Q

Characteristics of Digeorge syndrome

SCID

A

congenital heart disease (40%), palatal abnormalities (50%), learning disabilities (90%), hypocalcemia (50%), mild differences in facial features

98
Q

complete digeorge syndrome (SCID)

A

athymic

*very few t cells if any

99
Q

Tx for digeorge synrome

A

thymic transplant, no tx for other features

100
Q

ZAP 70 deficiency (SCID)

A

pt.’s have absence of CD8 T cells, but normal number of NON-FUNCTIONAL CD4 t cells

101
Q

Cause of Zap 70 def.

A

genetic defect that prevents expression of function zap70

102
Q

what is zap 70

A

tyrosine kinase that associates with phosphorylated ITAMs during t cells development
*ZAP 70 is required for signaling via the TCR

103
Q

Tx for ZAP-70 deficiencty

A

bone marrow transplant

104
Q

Cause of OMENN syndrome

A

mis-sense muatation that results in partially active RAG enzymes

105
Q

result of OMENN syndrome (SCID)

A

absence of B cells and low numbers of oligoclonal autoreactive T cells
*susceptible to all types of infections and also suffer from autoimmune disease that attacks skin and GI as well

106
Q

tx for OMENN syndrome

A

bone marrow transplant

107
Q

SYMPTOMS OF OMENN SYNDROME

A

erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly

108
Q

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)

A

a genetic deficiency of (AIRE) that is expressed in the thymic medulla
*impaired negative selection of thymocytes

109
Q

Clinical presentation of APECED

A

problems in numerous glands (polyglandular) including hypoparathyroidism, hypogonadism (with sex gland failure), adrenal insufficiency, type 1 (insulin-dependent) diabetes, and latent hypothyroidism, total baldness (alopecia totalis), keratoconjunctivitis, tooth enamel hypoplasia, candidiasis (yeast infection), juvenile-onset pernicious anemia, gastrointestinal problems (malabsorption, diarrhea)

110
Q

transcription factor that regulates expression of several hundred host-tissue specific genes by epithelial cells in the thymic medulla

A

AIRE

111
Q

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX) results from

A

deficiency of FoxP3 expression by Tregs

*early onset autoimmunity to a variety of host tissues due to lack of Treg cell function

112
Q

Clinical triad associated with IPEX

A

1) watery diarrhea,
2) eczematous dermatitis
3) endocrinopathy (type 1 diabetes)

113
Q

Tx for IPEX

A

aggressive immunosuppresion and/or bone marrrow transplant

114
Q

Autoimmune Lymphoproliferative Syndrome (ALPS) is characterized primarily by what physical findings

A

lymphadenopathy and splenomegaly

115
Q

What causes ALPS

Autoimmune Lymphoproliferative Syndrome

A

*mutation in Fas, FasL, or Caspase 10

immune cells failing to undergo apoptotic death following an immune response; causes overpopulation of secondary lymphoid tissues

116
Q

PRESENTATION OF ALPS

Autoimmune Lymphoproliferative Syndrome

A

autoimmune hemolytic anemia and neutropenia, thrombocytopenia (decreased platelets in the blood), lymphadenopathy, splenomegaly; also, often have large number of CD4- CD8- T cells

117
Q

TX OF ALPS

Autoimmune Lymphoproliferative Syndrome

A

IMMUNOSUPRESSION

IV-Ig

118
Q

Classical presentation of DiGeorge syndrome

A 
*CATCH 22*
Cardiac Abnormality (especially tetralogy of Fallot)
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia/Hypoparathyroidism.
22ND chromosome

CMOD (19 decks)

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