Immunodeficiencies: Etiology/ Defect

Question 1

X-linked agammaglobulinemia

Answer 1

Defect in BTK gene (tyrosine kinase gene)

Question 2

Common variable immunodeficiency

Answer 2

Defect in B cell differentiation

Question 3

DiGeorge Syndrome

Answer 3

22q11 deletion

Question 4

Autosomal dominant hyper-IgE (Job) syndrome

Answer 4

STAT3 mutation –> Th17 cell deficiency

Question 5

Chronic mucocutaneous candidiasis

Answer 5

T-cell dysfunction

Question 6

SCID

Answer 6

1) defective IL-2R (x-linked); 2) adenosine deaminase deficiency

Question 7

Ataxia-telangiectasia

Answer 7

Defect in ATM gene (DNA repair gene)

Question 8

Hyper IgM syndrome

Answer 8

Defective CD40L on Th cells–> class switching defect (x-linked recessive)

Question 9

Wiskott-Aldrich syndrome

Answer 9

Mutation in WASp gene –> defective antigen presentation (x-linked recessive)

Question 10

Leukocyte adhesion deficiency

Answer 10

Defect in LFA-1 integrin (CD18)–> impaired migration and chemotaxis

Question 11

Chediak-Higashi syndrome

Answer 11

Defect in lysosomal trafficking regulator gene

Question 12

Chronic granulomatous disease

Answer 12

Defect of NADPH oxidase (x-linked recessive)