Immunodeficiency syndromes

Question 1

4 causes of SCID

Answer 1

IL-2 receptor (no B and T cell maturation/proliferation)
ADA (toxicity of adenosine buildup)
MHC 2
RAG (recombinase) (no B and T cell receptor development)

Question 2

SCID - susceptibilities

Answer 2

Bacteria, Fungi, Viruses, Protozoa, live vaccines, opportunistic infections

Question 3

X-linked agammaglobulinemia - problem?

Answer 3

Mutated BTK (tyrosine kinase) –> no B cell maturation –> no Immunoglobulins

Question 4

X-linked agammaglobulinemia - susceptibilities

Answer 4

Bacteria, enteroviruses, Giardia, and live vaccines AFTER 6 MONTHS

Question 5

X-linked agammaglobulinemia - what cell type is absent?

Answer 5

Plasma cells

Question 6

Recurrent infections of mucosal locations

Association w/ GI disease?

Answer 6

IgA deficiency

Celiac disease

Question 7

Hyper-IgM - cause

Susceptibility

Answer 7

Defective CD40 or CD40L –> no B-cell class switching

Pyogenic infections (no opsonization) (especially mucosa)

Question 8

Wiskott-Aldrich - symptoms

Mutation?

Answer 8

Thrombocytopenia, eczema, recurrent infections (deficient humoral and cellular immunity)

WASP gene

Question 9

C5-C9 deficiency

Answer 9

Neisseria infections

Question 10

C1 inhibitor deficiency

Answer 10

Hereditary angioedema (skin and mucosa)