FA quick B and T cells 11/05

Question 1

4 disorders of T and B cells?

Answer 1

Severe combined immunodeficiency;
Ataxia-telangiectasia;
Hyper-IgM syndrome;
Wiskott-Aldrich syndrome

Question 2

Several types including defective IL-2R gamma chain (most common, X-linked recessive)?

Answer 2

Severe combined immunodeficiency

Question 3

adenosine deaminase deficiency (autosomal recessive)?

Answer 3

Severe combined immunodeficiency

Question 4

RAG mutation –> VDJ recombination defect?

Answer 4

Severe combined immunodeficiency

Question 5

Failure to thrive, chronic diarrhea, thrush?

Answer 5

Severe combined immunodeficiency

Question 6

Recurrent viral, bacterial, fungal, and protozoal infections?

Answer 6

Severe combined immunodeficiency

Question 7

decr. T-cell receptor excision circles (TRECs)

Answer 7

Severe combined immunodeficiency

Question 8

Part of newborn screening for SCID?

Answer 8

Severe combined immunodeficiency

Question 9

Absence of thymic shadow (CXR)?

Answer 9

Severe combined immunodeficiency

Question 10

Absence of thymic shadow (CXR), germinal centers (lymph node biopsy), and T cells (flow cytometry)

Answer 10

Severe combined immunodeficiency

Question 11

Defects in ATM gene?

Answer 11

Ataxia-telangiectasia

Question 12

Defects in ATM gene –> failure to detect DNA damage?

Answer 12

Ataxia-telangiectasia

Question 13

Defects in ATM gene –> failure to detect DNA damage –> failure to halt progression of cell cycle –> mutations accumulate; autosomal recessive?

Answer 13

Ataxia-telangiectasia

Question 14

Triad: cerebellar defects (Ataxia), spider Angiomas (telangiectasia A ), IgA deficiency

Answer 14

Ataxia-telangiectasia

Question 15

incr. sensitivity to radiation (limit x-ray exposure)

Answer 15

Ataxia-telangiectasia

Question 16

incr. AFP?

Answer 16

Ataxia-telangiectasia

Question 17

decr. IgA, IgG, and IgE?

Answer 17

Ataxia-telangiectasia

Question 18

Lymphopenia, cerebellar

atrophy?

Answer 18

Ataxia-telangiectasia

Question 19

incr. risk of lymphoma and

leukemia

Answer 19

Ataxia-telangiectasia

Question 20

Most commonly due to defective CD40L on Th cells –> class switching defect; X-linked recessive

Answer 20

Hyper-IgM syndrome

Question 21

Severe pyogenic infections early in life?

Answer 21

Hyper-IgM syndrome

Question 22

opportunistic infection with Pneumocystis, Cryptosporidium, CMV?

Answer 22

Hyper-IgM syndrome

Question 23

Normal or incr. IgM

Answer 23

Hyper-IgM syndrome

Question 24

decr (2 arrows) IgG, IgA, IgE

Answer 24

Hyper-IgM syndrome

Question 25

Failure to make germinal

centers

Answer 25

Hyper-IgM syndrome

Question 26

Mutation in WAS gene?

Answer 26

Wiskott-Aldrich syndrome

Question 27

leukocytes and platelets unable to reorganize actin cytoskeleton –> defective antigen presentation; X-linked recessive?

Answer 27

Wiskott-Aldrich syndrome

Question 28

Thrombocytopenia, Eczema, Recurrent (pyogenic) infections?

Answer 28

Wiskott-Aldrich syndrome

Question 29

incr. risk of autoimmune disease and malignancy?

Answer 29

Wiskott-Aldrich syndrome

Question 30

decr to normal IgG, IgM?

Answer 30

Wiskott-Aldrich syndrome

Question 31

incr. IgE, IgA?

Answer 31

Wiskott-Aldrich syndrome

Question 32

Fewer and smaller platelets?

Answer 32

Wiskott-Aldrich syndrome