What is Wiskott-Aldrich syndrome associated with hypogammaglobulinemia?

Updated: Dec 26, 2018
  • Author: Elizabeth A Secord, MD; Chief Editor: Michael A Kaliner, MD  more...
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Answer

Wiskott-Aldrich syndrome

  • Classically, patients with Wiskott-Aldrich syndrome (WAS) present with eczema, petechiae, bruising or bleeding, recurrent severe infections (including opportunistic infections) autoimmune diseases, and B-cell lymphomas. X-linked inheritance is exhibited. [2]

  • Thrombocytopenia and small platelet size are usually seen on routine blood work results. Low levels of IgG, IgM, and IgE and, sometimes, elevated IgA levels, as well as impaired specific antibody production, are also seen. T-cell abnormalities are also seen, including lymphocytopenia and impaired T-cell function.

  • WAS protein mutations define this entity.

  • The only curative treatment is hematopoietic stem cell (bone marrow) transplantation. Prior to bone marrow transplantation, patients with WAS are treated with prophylactic antibiotics, splenectomy, and IVIG. While gene therapy remains unproven for WAS at this time, good clinical and laboratory results have been observed in a few patients. [11]


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