Review Question - QID 106655

This patient is presenting with Wiskott-Aldrich syndrome, as seen by the triad of thrombocytopenic purpura (Figure B), multiple infections, and eczema (Figure A). Wiskott-Aldrich is characterized by increased IgE/IgA and decreased IgM.

Wiskott-Aldrich syndrome is an X-linked B and T cell immunodeficiency, which is caused by a defect in the WASP gene on the X chromosome. It causes T cells to be unable to reorganize their actin cytoskeleton and leads to the clinical triad mentioned above. Increased IgE/IgA, decreased IgM, and normal IgG are observed on serologic evaluation. Treatment consists of an HLA-matched bone marrow transplant.

Figure A demonstrates a child with eczema. Figure B demonstrates the findings of thrombocytopenic purpura.

Incorrect Answers:
Answer 1: Increased: IgM, Decreased: IgG, IgA, IgE is characteristic of Hyper-IgM syndrome which causes severe pyogenic infections in the first months of life.

Answer 2: Increased IgE is characteristic of hyper-IgE syndrome in which impaired STAT3 function leads to severely impaired Th17 development as well as a failure of Th1 cells to produce interferon-gamma.

Answer 4: Increased: IgE, Decreased: IgG, IgM, IgA is not observed in Wiskott-Aldrich syndrome and is not characteristic of a specific immunodeficiency.

Answer 5: Decreased: IgE, IgM, IgA, IgG is characteristic of X-linked (Bruton's) agammaglobulinemia.