Immune Deficiencies Findings

Question 1

Bruton agammaglobulinemia

Answer 1

Normal CD19+ B cell count, dec. pro-B, dec. Ig of all classes. Absent/scanty lymph nodes and tonsils.

Question 2

Selective IgA def.

Answer 2

IgA < 7 mg/dL with normal IgG, IgM levels

Question 3

Common variable immunodeficiency

Answer 3

Dec. plasma cells, dec. immunoglobulins

Question 4

Thymic aplasia

Answer 4

Dec. T cells, Dec. PTH, dec. Ca2+, absent thymic shadow on CXR. 22q11 deletion detected by FISH.

Question 5

IL-12 receptor deficiency

Answer 5

Dec. IFN-gamma

Question 6

Aut. dom. hyper IgE syndrome (Job syndrome)

Answer 6

Inc. IgE, dec. IFN gamma

Question 7

Chronic mucocutaneous candidiasis

Answer 7

Absent in vitro T-cell proliferation in response to Candida antigens. Absent cutaneous reaction to Candida antigens.

Question 8

SCID

Answer 8

Dec. T-cell receptor excision circles (TRECs). Absence of thymic shadow (CXR), germinal centers (lymph node biopsy), and T cells (flow cytometry)

Question 9

Ataxia-telangiectasia

Answer 9

Inc. AFP, Dec. IgA, IgG, and IgE. Lymphopenia, cerebellar atrophy.

Question 10

Hyper-IgM syndrome

Answer 10

Inc. IgM, very low IgG, IgA, IgE

Question 11

Wiskott-Aldrich syndrome

Answer 11

Dec. to normal IgG, IgM. Inc. IgE, IgA. Fewer and smaller platelets.

Question 12

Leukocyte adhesion deficiency (type 1)

Answer 12

Inc. PMNs. Absence of PMNs at infection sites.

Question 13

Chediak Higashi syndrome

Answer 13

Giant granules in PMNs and platelets. Pancytopenia. Mild coagulation defects.

Question 14

Chronic granulomatous disease

Answer 14

Abnormal dihydrorhodamine (flow cytometry) test. nitroblue tetrazolium dye reduction test is neg. (test out of favor)