Immunodeficiencies

Question 1

Selective IgA Deficiency:

Answer 1

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

Question 2

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

Answer 2

Presentation of IgA Deficiency

Question 3

Patients with IgA deficiency are susceptible to what disease?

Answer 3

Giardiasis

Question 4

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

Answer 4

X-linked (Bruton) Agammaglobulinemia

Question 5

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

Answer 5

Lab findings in Bruton’s Agammaglobulinemia:

Question 6

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

Answer 6

Presentation of Bruton Agammagloublinemia

Question 7

Defect in B cell differentiation

Answer 7

Common Variable Immunodeficiency

Question 8

Lab findings in Common Variable Immunodeficiency:

Answer 8

Decreased plasma cells and immunoglobulins

Question 9

Presentation of Common Variable Immunodeficiency:

Answer 9

Presents after age 2 and may be delayed

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

Question 10

Thymic Aplasia (Digeorge Syndrome:

Answer 10

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

Question 11

Lab findings in Thymic Aplasia:

Answer 11

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

Question 12

Clinical presentation of Thymic Aplasia

Answer 12

Tetany, recurrent viral/fungal infections, conotruncal abnormalities

Question 13

IL-12 receptor deficiency:

Answer 13

AR Decreased Th1 response

Question 14

Lab findings in IL-12 deficiency:

Answer 14

Decreased IFN-gamma

Question 15

Clinical presentation of IL-12 receptor deficiency:

Answer 15

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

Question 16

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

Answer 16

AD Hyper-IgE syndrome (Job):

Question 17

Lab findings in Hyper-IgE syndrome:

Answer 17

Increased IgE and eosinophils

Question 18

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

Answer 18

Hyper-IgE syndrome:

Question 19

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

Answer 19

Chronic mucocutaneous candidiasis:

Question 20

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

Answer 20

Lab findings of Chronic mucocutaneous candidiasis

Question 21

Defective IL-2R gamma chain (XLR)

Adenosine Deaminase deficiency (AR)

Answer 21

SCID

Question 22

Lab findings in SCID:

Answer 22

Decreased TCR excision circles

Absent thymic shadow, germinal centers, and T cells

Question 23

Clinical presentation of SCID:

Answer 23

FTT, chronic diarrhea, thrush

Recurrent viral, bacterial, fungal and protozoal infections

Avoid live vaccines, antimicrobial prophylaxis and IVIG, BM transplant

Question 24

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

Answer 24

Ataxia Telangiectasia

Question 25

Increased AFP Decrease IgA, IgE, and IgE Lymphopenia, cerebellar atrophy Increased risk of lymphoma and leukemia

Answer 25

Lab finding of Ataxia Telangiectasia

Question 26

Cerebellar defects, spider angioma, IgA deficiency Ataxia, telangiectasias, IgA deficiency, poor smooth pursuit of moving target

Answer 26

Clinical presentation of Ataxia Telangiectasia

Question 27

Hyper-IgM Syndrome:

Answer 27

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

Question 28

Lab values in Hyper-IgM Syndrome:

Answer 28

Normal or increased IgM Decrease IgG, IgA, IgE Failure to make germinal centers

Question 29

Wiskott Aldrich Syndrome

Answer 29

XLR Mutation in WASp gene; Leukocytes nd platelets are unable to recognize actin skeleton--> defecting atigen presentation

Question 30

Lab findings in Wiskott Aldrich Syndrome:

Answer 30

Decreased to normal IgG, IgM Increased IgE and IgA Fewer and smaller platelets

Question 31

Clinical manifestation of Wiskott-Aldrich Syndrome:

Answer 31

Thrombocytopenia, Eczema, Recurrent pyogenic infections Increased risk of AI Dz and malignancy

Question 32

Leukocyte Adhesion Deficiency (LAD):

Answer 32

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

Question 33

Lab findings in LAD:

Answer 33

Increased neutrophils in blood Absence of neutrophils at infection site, noabscess formation

Question 34

Clinical manifestations of LAD:

Answer 34

recurrent mucosal and skin infections absent pus delayed separation of the umbilical cord (>30 days) impaired wound healing (thin blue scars)

Question 35

Chediak-Higashi Syndrome:

Answer 35

AR defect in lysosomal trafficking regulator gene (LYST) Microtubule dysfunction in phagosome-lysosome fusion

Question 36

Lab findings in Chediak-Higashi syndrome:

Answer 36

Giant granules in granulocytes and platelets Pancytopneia Mild coagulation defects

Question 37

Clinical Presentation of Chediak Higashi Syndrome:

Answer 37

Progression neurodegeneration Lymphohistiocytosis Partial Albinism Recurrent pyogenic infections by staphylococcal and streptococcal organisms Peripheral neuropathy

Question 38

Chronic Granulomatous Disease:

Answer 38

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

Question 39

Lab findings in CGD:

Answer 39

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

Question 40

Clinical presentation of CGD:

Answer 40

Increased susceptibility to catalase + organisms

Question 41

C3 deficiency:

Answer 41

Low C3; decreased opsonization of encapsulated bacteria

Question 42

Clinical presentation of C3 deficiency

Answer 42

Recurrent sinus infections ad respiratory tract infections with encapsulated organism Increased susceptibility to type III HS reactions

Question 43

Paroxysmal Nocturnal Hemoglobinuria (PNH):

Answer 43

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

Question 44

Clinical presentation of PNH:

Answer 44

Complement mediated lysis of RBCs during acidic conditions (sleeping)

Question 45

Terminal complement deficiencies (C5-9):

Answer 45

Increase susceptibility to recurrent Neisseria bactermia

Question 46

Early complement deficiencies (C1-C4):

Answer 46

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