Immunodeficiency Defect

Question 1

IL2R gamma chain defect

Answer 1

SCID

Question 2

ADA deficiency

Answer 2

SCID

Question 3

ATM gene defect, leading to failure to repair double strand breaks

Answer 3

Ataxia telangiectasia

Question 4

WAS gene (x-linked) T cells unable to reorganize actin cytoskeleton

Answer 4

Wiscott aldrich disease

Question 5

CD40L mutation (X-linked)

Answer 5

Hyper IgM syndrome

Question 6

LYST (lysosomal trafficking) gene, leading to microtubule dysfunction in phagosome-lysosome fusion
Autosomal recessive

Answer 6

Chediak Higashi

Question 7

Defect in LFA-1 integrin on phagocytes, impaired migration

Autosomal recessive

Answer 7

Leukocyte adhesion deficiency

Question 8

NADPH oxidase, X-linked

Answer 8

Chronic granulomatous disease

Question 9

BTK defect, tyrosine kinase gene

X-linked

Answer 9

X-linked (bruton’s) agammaglobulinemia

Question 10

Most common primary immunodeficiency

Answer 10

Selective IgA deficiency

Question 11

Defect in B cell differentiation

Answer 11

Common variable immunodeficiency

Question 12

22q11 mutation, failure in 3rd and 4th pouch development

Answer 12

Thymic aplasia (DiGeorge’s syndrome)

Question 13

Th17 deficiency due to STAT3 mutation

Answer 13

Job syndrome

Question 14

Decreased Th1 response, autosomal recessive

Answer 14

IL-12 receptor deficiency