Immunodeficiency Diseases and Autoimmune Disorders II

Question 1

What is the clinical presentation associated with X-linked Bruton’s agammaglobulinemia?

Answer 1

Recurrent bacterial infections after 6 months of age (when maternal IgG has declined) due to opsonization defect (p.206)

Question 2

What is the clinical presentation associated with Selective IgA deficiency?

Answer 2

Majority of patients are asymptomatic. Sinopulmonary infections, GI infections, autoimmune disease may be present. Patients experience anaphylaxis to IgA containing blood products (p.206)

Question 3

What is the clinical presentation associated with Common variable immunodeficiency (CVID)?

Answer 3

Can be acquired in 20s-30s. Causes increased risk of autoimmune disease, lymphoma, and sinopulmonary infections (p.206)

Question 4

What findings are associated with X-linked agammaglobulinemia?

Answer 4

Normal proB cells with decreased maturation of B cells and decreased number of B cells. Decreased number of immunoglobulins of all classes (p.206)

Question 5

What findings are associated with selective IgA deficiency?

Answer 5

IgA < 7 mg/dL with normal IgG, IgM, and IgG vaccine titers (p.206)

Question 6

What findings are associated with common variable immunodeficiency (CVID)?

Answer 6

Normal number of B cells with decreased plasma cells and immunoglobulin (p.206)

Question 7

What test may be read as a false positive in patients with selective IgA deficiency?

Answer 7

False positive b-HCG test may be present due to presence of heterophile antibody (p.206)

Question 8

What defect is associated with Thymic aplasia (DiGeorge syndrome)?

Answer 8

22q11 deletion and failure to develop the 3rd and 4th pharyngeal pouches (p.206)

Question 9

What defect is associated with IL-12 receptor deficiency?

Answer 9

Decreased Th1 response (p.206)

Question 10

What defect is associated with Hyper IgE syndrome (Job’s syndrome)?

Answer 10

Th1 cells fail to produce IFN-y which makes neutrophils unable to respond to chemotactic stimuli (p.206)

Question 11

What defect is associated with chronic mucocutaneous candidiasis?

Answer 11

T cell dysfunction (p.206)

Question 12

What is the clinical presentation associated with Thymic aplasia (DiGeorge syndrome)?

Answer 12

Tetany (hypocalcemia), recurrent viral/fungal infections (T cell deficiency); congenital heart defects, great vessel defects (p.206)

Question 13

What is the clinical presentation associated with IL-12 receptor deficiency?

Answer 13

Disseminated mycobacterial infections (p.206)

Question 14

What is the clinical presentation associated with Hyper IgE syndrome (Job’s syndrome)?

Answer 14

Coarse facies, cold (noninflammed) staphylococcal abcesses, retained primary teeth, increased IgE, dermatologic problems (eczema) (acronym- FATED) (p.206)

Question 15

What is the clinical presentation associated with Chronic mucocutaneous candidiasis)?

Answer 15

Candida albicans infections of skin and mucous membranes (p.206)

Question 16

What findings are associated with thymic aplasia (DiGeorge)?

Answer 16

Thymus and parathyroids fail to develop causing decreased numbers of T cells, PTH, and Ca2+. An absent thymic shadow is present on xray (p.206)

Question 17

What findings are associated with IL-12 receptor deficiency?

Answer 17

Decreased IFN-y (p.206)

Question 18

What findings are associated with Hyper IgE syndrome (Job’s syndrome)?

Answer 18

Increased IgE (p.206)

Question 19

Name four conditions which are associated with both B and T cell dysfunction.

Answer 19

SCID, Ataxia-telangiectasia, Hyper IgM syndrome, Wiskott-Aldrich syndrome (p.207)

Question 20

Name three conditions that are associated with phagocyte dysfunction.

Answer 20

Leukocyte adhesion deficiency (type I), Ch̩diak-Higashi syndrome, Chronic granulomatous disease (p.207)

Question 21

What defect is associated with SCID?

Answer 21

Most commonly a defective IL-12 receptor (X linked) or adenosine deaminase deficiency (p.207)