immunodeficiencies

Question 1

defect in BTK ( no b cell maturation

Answer 1

x-linked Bruton agammaglobulinemia

Question 2

defect in b cell differentiation

Answer 2

Common variable immunodeficiency

Question 3

deficient in TH 17 cells because of a STAT3 mutation ( impaired recruitment of neutrophils to infection)

Answer 3

autosomal dominant hyper IgE syndrome “job syndrome”

Question 4

t cell dysfcuntion

Answer 4

chronic mucocutaneous candidiasis

Question 5

defective IL-2R gamma chain and adenosine deaminase

Answer 5

SCID

Question 6

defective ATM gene failure to repair DNA double stranded breaks

Answer 6

ataxia-telangiectasia

Question 7

defective CD40L on TH cells so there is a class switching problem (x linked recessive)

Answer 7

hyper IgM syndrome

Question 8

mutation in WAS gene so that t cells are unable to recognize actin cytoskeleton ( x linked recessive)

Answer 8

Wiskott-Aldrich Syndrome

Question 9

defect in LFA-1 intern (CD18) protein on phagocytes, impaired migration and chemotaxis ( AR)

Answer 9

Leukocyte Adhesion Deficiency type 1

Question 10

defect in lysosomal trafficking regulator gene (LYST) causing microtubule dysfunction in phagolysosome-lysosome fusion (AR)

Answer 10

chediak-higashi syndrome

Question 11

defect in NADPH oxidase causing a decrease in ROS

Answer 11

CGD