Immunology L2: Primary immunodef

Question 1

Gene defects in SCID

Answer 1

• Cytokine receptor signaling: IL2RG, JAK3, IL7RA
• Generation of antigen receptor: RAG-1, -2, Artemis [V(d)J recombinase/DNA repair factor]
• Survival of lymphocyte precursors: Adenosine deaminase (ADA)
• Defects in lymphocyte activation: CD45, CD3d, CD3e, IKBKB

Question 2

DiGeorge Syndrome

Answer 2

Adhesion receptor protein (DGCR2): defect in chromosome 22q11