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COMLEX 1 > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

Bruton agammaglobulinemia - defect

A

defect in BTK, a tyrosine kinase gene -> no B-cell maturation
insufficient opsonization of pathogens with IgG
X-linked recessive

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2
Q

Bruton agammaglobulinemia - presentation

A

recurrent extracellular encapsulated bacterial and enteroviral infections after 6mo (decrease maternal IgG)

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3
Q

Bruton agammaglobulinemia - findings

A

absent B cells in peripheral blood
decrease Ig of all classes
Absent/scanty lymph nodes and tonsils
LIVE VACCINES CONTRAINDICATED

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4
Q

Selective IgA deficiency - defect

A

unknown

most common primary immunodeficiency

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5
Q

Selective IgA deficiency - presentation

A 
majority: asymptomatic
can see airway and GI infections
autoimmune disease
atopy
anaphylaxis to IgA-containing products
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6
Q

Selective IgA deficiency - findings

A

decrease IgA with normal IgG, IgM levels

increase susceptibility to GIARDIASIS

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7
Q

Common variable immunodeficiency - defect

A

defect in B-cell differentiation

cause is unknown in most cases

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8
Q

Common variable immunodeficiency - presentation

A

usually presents after age 2 and may be considered delayed

increase risk of autoimmune disease, bronchiectasis, lymphoma, sinopulmonary infections

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9
Q

Common variable immunodeficiency - findings

A

decrease plasma cells

decrease immunoglobulins

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10
Q

thymic aplasia (DiGeorge syndrome) - defect

A

22q11 deletion

failure to develop 3rd and 4th pharyngeal pouches -> absent thymus and parathyroids

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11
Q

thymic aplasia (DiGeorge syndrome) - presentation

A 
tetany (hypocalcemia)
recurrent viral/fungal infections, intracellular bacteria (T-cell deficiency) 
cotruncal abnormalities (tetralogy of Fallot, truncus arteriosus)
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12
Q

thymic aplasia (DiGeorge syndrome) - findings

A

decrease T cells, decrease PTH, decrease Ca2+

thyme shadow absent on CXR

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13
Q

IL-12 receptor deficiency - defect

A

decrease Th1 response

autosomal recessive

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14
Q

IL-12 receptor deficiency - presentation

A

disseminated mycobacterial and fungal infections

may present after administration of BCG vax

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15
Q

IL-12 receptor deficiency - findings

A

decrease IFN-gamma

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16
Q

autosomal dominant hyper-IgE syndrome (Job syndrome) - defects

A

deficiency of Th17 cells due to STAT3 mutation -> impaired recruitment of neutrophils to sites of infection

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17
Q

autosomal dominant hyper-IgE syndrome (Job syndrome) - presentation

A 
FATED: 
coarse Facies
cold (non inflamed) staphylococcal Abscesses
retained primary Teeth
increased IgE
Dermatologic problems (eczema)

bone fractures from minor trauma

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18
Q

autosomal dominant hyper-IgE syndrome (Job syndrome) - findings

A

increase IgE

increase eosinophils

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19
Q

chronic mucocutaneous candidiasis - defect

A

T-cell dysfunction

can result from congenital genetic defects in IL-17 or IL-17 receptors

20
Q

chronic mucocutaneous candidiasis - presentation

A

noninvasive Candida albicans infections of skin and mucous membranes

21
Q

chronic mucocutaneous candidiasis - findings

A

absent in vitro T-cell proliferation in response to candida antigens
absent cutaneous reaction to candida antigens

22
Q

severe combined immunodeficiency - defect

A

several types including:
defective IL-2R gamma chain (most common, XR)
adenosine deaminase deficiency (AR)

23
Q

severe combined immunodeficiency - presentation

A

failure to thrive, chronic diarrhea, thrush
recurrent viral, bacterial, fungal, and protozoal infections
treatment: avoid live vax, give antimicrobial prophylaxis and IVIG; BONE MARROW TRANSPLANT = curative

24
Q

severe combined immunodeficiency - findings

A

decrease T-cell receptor excision circles (TRECs)

absence of thymic shadow (CXR), germinal centers (lymph node biopsy), and T cells (flow cytometry)

25
Q

ataxia-telangiectasia - defect

A

defects in ATM gene -> failure to detect DNA damage -> failure to halt progression of cell cycle -> mutations accumulate
AR
defect in DNA ds repair enzyme

26
Q

ataxia-telangiectasia - presentation

A 
triad: 
cerebellar defects (ataxia)
spider angiomas (telangiectasia)
IgA deficiency
27
Q

ataxia-telangiectasia - findings

A

increase AFP
decrease IgA, IgG, and IgE
lymphopenia, cerebellar atrophy
increase risk of lymphoma and leukemia

28
Q

Hyper-IgM syndrome - defect

A 
most commonly due to defective CD40L on Th cells -> class switching defect
XR
29
Q

Hyper-IgM syndrome - presentation

A

severe pyogenic infections early in life

opportunistic infection with Pneumocystis (fungal), cryptosporidium, CMV

30
Q

Hyper-IgM syndrome - findings

A

normal or increase IgM
marked decrease IgG, IgA, IgE
failure to make germinal centers

31
Q

Wiskott-Aldrich syndrome - defect

A

mutation in WASp gene
leukocytes and platelets unable to reorganize actin cytoskeleton -> defective antigen presentation
XR

32
Q

Wiskott-Aldrich syndrome - presentation

A 
WATER:
Wiskott-Aldrich:
Thrombocytopenia
Eczema
Recurrent (pyogenic) infections
increase risk of autoimmune disease and malignancy
33
Q

Wiskott-Aldrich syndrome - findings

A

decrease to normal IgG, IgM
increase IgE, IgA
fewer and smaller platelets

34
Q

Leukocyte adhesion deficiency type 1 - defect

A

Defect in LFA-1 integrin (CD18) protein on phagocytes
impaired migration and chemotaxis
AR

35
Q

Leukocyte adhesion deficiency type 1 - presentation

A

recurrent skin and mucosal bacterial infections, absent pus, impaired wound healing, delayed (>30d) separation of umbilical cord

36
Q

Leukocyte adhesion deficiency type 1 - findings

A

increase neutrophils in blood

absence of neutrophils at infection sites

37
Q

Chediak-Higashi syndrome - defect

A

defect in lysosomal trafficking regulator gene (LYST)
microtubule dysfunction in phagosome-lysosome fusion
AR
decrease phagocytosis

38
Q

Chediak-Higashi syndrome - presentation

A 
PLAIN: 
Progressive neurodegeneration
Lymphobistiocytosis
Albinism (partial)
recurrent pyogenic Infections by staphylococci and streptococci (gram +, gram -, fungal)
peripheral Neuropathy
39
Q

Chediak-Higashi syndrome - findings

A

giant granules in granulocytes and platelets
pancytopenia
mild coagulation defects

40
Q

chronic granulomatous disease - defect

A

defect in NADPH oxidase -> decrease ROS (e.g. superoxide) and decrease respiratory burst in neutrophils
X-linked most common

41
Q

chronic granulomatous disease - presentation

A

increase susceptibility to catalase + organisms

- staph aureus, pseudomonas, klebsiella, aspergillus

42
Q

chronic granulomatous disease - findings

A 
abnormal dihydrorhodamine (flow cytometry) test (decrease green fluorescence)
nitroblue tetrazolium dye reduction test (obsolete) fails to turn blue
43
Q

early complement deficiencies

A

C1-C4
increased risk of severe, recurrent pyogenic sinus and respiratory tract infections
increased risk of SLE

44
Q

terminal complement deficiencies

A

C5-C9

increased susceptibility to recurrent Neisseria bacteremia

45
Q

C1 esterase inhibitor deficiency

A

causes hereditary angioedema d/t unregulated activation of kallikrein -> increase bradykinin
characterized by decreased C4 levels
ACEi CONTRAINDICATED

46
Q

paroxysmal nocturnal hemoglobinuria

A

defect in PIGA gene preventing the formation of anchors for complement inhibitors (decay-accelerating factor [DAF/CD55] and membrane inhibitor of reactive lysis [MIRL/CD59])
causes complement-mediated lysis of RBCs

COMLEX 1 (14 decks)

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