Immunodeficiencies by Kurt Asperas

Question 1

Nomal cell mediated; Low levels of all immunoglobulins; tyrosine kinase deficiency

Answer 1

x-Linked agammaglobulinemia/Bruton’s Agammaglobulinemia

Question 2

6 mos male infant; recurrent pyogenic and enteroviral infections; recurrent giardiasis

Answer 2

x-Linked agammaglobulinemia/Bruton’s Agammaglobulinemia

Question 3

Failure of isotype switching; do not give gamma globulin

Answer 3

Selective IgA deficiency

Question 4

Defect in B-cell maturation to plasma cells; Most common form of severe antibody deficiency affecting both children and adults

Answer 4

Common Variable Immunodeficiency

Question 5

CATCH 22 = DiGeorge Syndrome

Answer 5

Cardiac Anomalies (TOF); Abnormal Fascies; Thymic aplasia; Cleft Palate; Hypocalcemia; 22q11.2 Chromosomal Deletion

Question 6

specific T-cell defeciency for Candida Albicans

Answer 6

Chronic Mucocutaneous Candidiasis

Question 7

X-linked defect in IL-2 receptors in T-cells

Answer 7

SCID

Question 8

autosomal Adenosine deaminase deficiency

Answer 8

SCID

Question 9

Inability to mount IgM response

Answer 9

Wiskott-Aldrich Syndrome

Question 10

WASP Gene Mutation (how do you TIE a WASP?)

Answer 10

Thrombocytopenia, Infections, Eczema, WASP Mutation)

Question 11

ATI of Ataxia-Telangiectasia

Answer 11

Ataxia, Telangectasia, IgA deficiency

Question 12

Lack of NADPH Oxidase activity; Failure of oxidative burst

Answer 12

Chronic Granulomatous Disease

Question 13

Diagnostic Test for Chronic Granulomatous Disease

Answer 13

Nitroblue Tetrazolium

Question 14

Autosomal recessive; failure of phaglysosomal fusion presenting as recurrent pyogenic infections caused by staph and strep

Answer 14

Chediak-Higashi Syndrome

Question 15

Mutation in integrins; defective adhesion (LFA-1) proteins on the surface phagocytes

Answer 15

Leukocyte Adhesion Deficiency

Question 16

Most common complement defect

Answer 16

C2 deficiency

Question 17

c5-c9 deficiency

Answer 17

Terminal complement deficiency