Immune Deficiencies

Question 1

BTK defect leading to no B cell maturation, recurrent infections after 6 months

Answer 1

Bruton’s agammaglobinemia

Question 2

most common primary immunodeficiency,

Answer 2

Selective IgA deficiency

Question 3

defect in B-cell maturation, acquired in 20s-30s

Answer 3

common variable immunodeficiency

Question 4

22q11 deletion, failure to develop 3rd and 4th pharyngeal pouch

Answer 4

DiGeorge syndrome

Question 5

Decreased Th1 response

Answer 5

IL-12 receptor deficiency

Question 6

TH1 cells fail to produce IFN-y; inability of neutrophils to respond to chemotactic stimuli

Answer 6

Hyper-IgE syndrome (Job syndrome)

Question 7

t-cell dysfunction

Answer 7

chronic mucocutaneous candidiasis

Question 8

IL-2 receptor defect or adenosine deaminase deficiency

Answer 8

SCID

Question 9

Defect in the ATM gene, which codes for DNA repair enzymes

Answer 9

Ataxia-telangiectasia

Question 10

defective CD40L on helper t-cells, inability to class switch

Answer 10

Hyper-IgM syndrome

Question 11

WAS gene; T-cells unable to reorganize actin cytoskeleton

Answer 11

Wiskott-aldrich syndrome

Question 12

defect in LFA-1 integrin on phagocytes

Answer 12

Leukocyte adhesion deficiency

Question 13

defect in lysosomal trafficking regulator gene (LYST); microtubule dysfunction in phagosome-lysosome fusion

Answer 13

Chediak-Higashi syndrome

Question 14

Lack of NADPH oxidase; decreased ROS and absent respiratory burst in neutrophils

Answer 14

Chronic granulomatous disease