A patient presents with thrombocytopenia, eczema and recurrent infections. What is the most probable diagnosis?
Correct Answer: Wiskott Aldrich syndrome
Description: Wiskott-Aldrich syndrome (WAS) is an X-linked platelet/immunologic disorder caused by mutations in the WASP gene. The triad of eczema, recurrent infections, and microthrombocytopenia that characterizes WAS only occurs in 27% of the cases. The immunologic defects include low serum concentrations of IgM, while IgA and IgG are normal and IgE is frequently increased. Ref: The Elements of Immunology By Fahim Halim Khan, 2009, Page 413 ; Harrison's 17th ed chapter 310
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