FA quick B and T cells 03-29 (2) Flashcards
4 disorders of T and B cells?
Severe combined immunodeficiency;
Ataxia-telangiectasia;
Hyper-IgM syndrome;
Wiskott-Aldrich syndrome
Several types including defective IL-2R gamma chain (most common, X-linked recessive)?
Severe combined immunodeficiency
adenosine deaminase deficiency (autosomal recessive)?
Severe combined immunodeficiency
RAG mutation –> VDJ recombination defect?
Severe combined immunodeficiency
Failure to thrive, chronic diarrhea, thrush?
Severe combined immunodeficiency
Recurrent viral, bacterial, fungal, and protozoal infections?
Severe combined immunodeficiency
decr. T-cell receptor excision circles (TRECs)
Severe combined immunodeficiency
Part of newborn screening for SCID?
Severe combined immunodeficiency
Absence of thymic shadow (CXR)?
Severe combined immunodeficiency
Absence of thymic shadow (CXR), germinal centers (lymph node biopsy), and T cells (flow cytometry)
Severe combined immunodeficiency
Defects in ATM gene?
Ataxia-telangiectasia
Defects in ATM gene –> failure to detect DNA damage?
Ataxia-telangiectasia
Defects in ATM gene –> failure to detect DNA damage –> failure to halt progression of cell cycle –> mutations accumulate; autosomal recessive?
Ataxia-telangiectasia
Triad: cerebellar defects (Ataxia), spider Angiomas (telangiectasia A ), IgA deficiency
Ataxia-telangiectasia
incr. sensitivity to radiation (limit x-ray exposure)
Ataxia-telangiectasia
incr. AFP?
Ataxia-telangiectasia
decr. IgA, IgG, and IgE?
Ataxia-telangiectasia
Lymphopenia, cerebellar
atrophy?
Ataxia-telangiectasia
incr. risk of lymphoma and
leukemia
Ataxia-telangiectasia
Most commonly due to defective CD40L on Th cells –> class switching defect; X-linked recessive
Hyper-IgM syndrome
Severe pyogenic infections early in life?
Hyper-IgM syndrome
opportunistic infection with Pneumocystis, Cryptosporidium, CMV?
Hyper-IgM syndrome
Normal or incr. IgM
Hyper-IgM syndrome
decr (2 arrows) IgG, IgA, IgE
Hyper-IgM syndrome
Failure to make germinal
centers
Hyper-IgM syndrome
Mutation in WAS gene?
Wiskott-Aldrich syndrome
leukocytes and platelets unable to reorganize actin cytoskeleton –> defective antigen presentation; X-linked recessive?
Wiskott-Aldrich syndrome
Thrombocytopenia, Eczema, Recurrent (pyogenic) infections?
Wiskott-Aldrich syndrome
incr. risk of autoimmune disease and malignancy?
Wiskott-Aldrich syndrome
decr to normal IgG, IgM?
Wiskott-Aldrich syndrome
incr. IgE, IgA?
Wiskott-Aldrich syndrome
Fewer and smaller platelets?
Wiskott-Aldrich syndrome