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Immunodeficiencies Flashcards

1
Q

Selective IgA Deficiency:

A

Unknown defect; Decreased IgA with normal IgG, IgM and B cell counts

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2
Q

Airway and GI infections, AI dz, Atopy, Anaphylaxis to IgA containing products (blood transfusion)

A

Presentation of IgA Deficiency

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3
Q

Patients with IgA deficiency are susceptible to what disease?

A

Giardiasis

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4
Q

XLR defect in the BTK tyrosine kinase gene leading to no B-cell maturation

A

X-linked (Bruton) Agammaglobulinemia

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5
Q

Absent B cells in peripheral blood, decrease Ig of all classes
Absent/scanty LNs and tonsils
live vaccines CI

A

Lab findings in Bruton’s Agammaglobulinemia:

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6
Q

Recurrent bacterial and enteroviral infections after 6 mos. d/t decreased maternal IgG

A

Presentation of Bruton Agammagloublinemia

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7
Q

Defect in B cell differentiation

A

Common Variable Immunodeficiency

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8
Q

Lab findings in Common Variable Immunodeficiency:

A

Decreased plasma cells and immunoglobulins

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9
Q

Presentation of Common Variable Immunodeficiency:

A

Presents after age 2 and may be delayed

Increased risk of AI dz, bronchiectasis, lymphoma and sinopulmonary infections

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10
Q

Thymic Aplasia (Digeorge Syndrome:

A

22q11 deletion–failure of the 3rd and 4th branchial pouches to develop leading to an absent thymus and absent parathyroids

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11
Q

Lab findings in Thymic Aplasia:

A

decreased T cells, PTH and Calcium; Absent thymic shadow on CXR

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12
Q

Clinical presentation of Thymic Aplasia

A

Tetany, recurrent viral/fungal infections, conotruncal abnormalities

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13
Q

IL-12 receptor deficiency:

A

AR Decreased Th1 response

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14
Q

Lab findings in IL-12 deficiency:

A

Decreased IFN-gamma

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15
Q

Clinical presentation of IL-12 receptor deficiency:

A

Disseminated mycobacterial and fungal infections; may present after the administration of the BCG vaccine

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16
Q

AD Deficiency of Th17 cells d/t STAT3 mutation leading to impaired recruitment of neutrophils to the site of infection

A

AD Hyper-IgE syndrome (Job):

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17
Q

Lab findings in Hyper-IgE syndrome:

A

Increased IgE and eosinophils

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18
Q

coarse facies, non-inflamed Staph abscesses, retained primary teeth, dermatologic problems

A

Hyper-IgE syndrome:

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19
Q

T cell dysfunction d/t congenital defects in IL-17 or IL-17 receptors

A

Chronic mucocutaneous candidiasis:

20
Q

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

A

Lab findings of Chronic mucocutaneous candidiasis

21
Q

Defective IL-2R gamma chain (XLR)

Adenosine Deaminase deficiency (AR)

A

SCID

22
Q

Lab findings in SCID:

A

Decreased TCR excision circles

Absent thymic shadow, germinal centers, and T cells

23
Q

Clinical presentation of SCID:

A

FTT, chronic diarrhea, thrush

Recurrent viral, bacterial, fungal and protozoal infections

Avoid live vaccines, antimicrobial prophylaxis and IVIG, BM transplant

24
Q

AR Defect in ATM gene leading to failure to detect DNA damage –> failure to halt progression of cell cycle –> accumulation of mutation

A

Ataxia Telangiectasia

25
Q

Increased AFP

Decrease IgA, IgE, and IgE

Lymphopenia, cerebellar atrophy

Increased risk of lymphoma and leukemia

A

Lab finding of Ataxia Telangiectasia

26
Q

Cerebellar defects, spider angioma, IgA deficiency

Ataxia, telangiectasias, IgA deficiency, poor smooth pursuit of moving target

A

Clinical presentation of Ataxia Telangiectasia

27
Q

Hyper-IgM Syndrome:

A

XLR Defective CD40L on Th cells leading to a class-switching defect

28
Q

Lab values in Hyper-IgM Syndrome:

A

Normal or increased IgM

Decrease IgG, IgA, IgE

Failure to make germinal centers

29
Q

Wiskott Aldrich Syndrome

A

XLR Mutation in WASp gene;

Leukocytes nd platelets are unable to recognize actin skeleton–> defecting atigen presentation

30
Q

Lab findings in Wiskott Aldrich Syndrome:

A

Decreased to normal IgG, IgM

Increased IgE and IgA

Fewer and smaller platelets

31
Q

Clinical manifestation of Wiskott-Aldrich Syndrome:

A

Thrombocytopenia, Eczema, Recurrent pyogenic infections

Increased risk of AI Dz and malignancy

32
Q

Leukocyte Adhesion Deficiency (LAD):

A

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

33
Q

Lab findings in LAD:

A

Increased neutrophils in blood

Absence of neutrophils at infection site, noabscess formation

34
Q

Clinical manifestations of LAD:

A

recurrent mucosal and skin infections

absent pus

delayed separation of the umbilical cord (>30 days)

impaired wound healing (thin blue scars)

35
Q

Chediak-Higashi Syndrome:

A

AR defect in lysosomal trafficking regulator gene (LYST)

Microtubule dysfunction in phagosome-lysosome fusion

36
Q

Lab findings in Chediak-Higashi syndrome:

A

Giant granules in granulocytes and platelets

Pancytopneia

Mild coagulation defects

37
Q

Clinical Presentation of Chediak Higashi Syndrome:

A

Progression neurodegeneration

Lymphohistiocytosis

Partial Albinism

Recurrent pyogenic infections by staphylococcal and streptococcal organisms

Peripheral neuropathy

38
Q

Chronic Granulomatous Disease:

A

XLR defect in NADPH oxidase leading to a decrease in the formation of reactive oxygen species (superoxide) and decreased respiratory burst from neutrophil

39
Q

Lab findings in CGD:

A

Abnormal dihydrorhodamine test (decreased green fluorescence) and Nitroblue tetrazolium dye reduction test fails to turn blue

40
Q

Clinical presentation of CGD:

A

Increased susceptibility to catalase + organisms

41
Q

C3 deficiency:

A

Low C3; decreased opsonization of encapsulated bacteria

42
Q

Clinical presentation of C3 deficiency

A

Recurrent sinus infections ad respiratory tract infections with encapsulated organism

Increased susceptibility to type III HS reactions

43
Q

Paroxysmal Nocturnal Hemoglobinuria (PNH):

A

Defect in the PIGA gene encoding for the anchors for complement inhibitors (DAF/CD55) and membrane inhibitor of reactive lysis (MIRL/CD59)

44
Q

Clinical presentation of PNH:

A

Complement mediated lysis of RBCs during acidic conditions (sleeping)

45
Q

Terminal complement deficiencies (C5-9):

A

Increase susceptibility to recurrent Neisseria bactermia

46
Q

Early complement deficiencies (C1-C4):

A

Increased risk of severe, recurrent pyogenic sinus and respiratory tract infections

Increased risk of SLE

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