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The proband, a 4-month-old boy, was referred to our hospital for evaluation of eczema, bicytopenia, leukocytosis, and splenomegaly, all of 2 months’ duration. He also had a history of pneumonia. The boy’s parents were not related, and there was a family history of early childhood deaths. Physical examination revealed splenomegaly and widespread eczema, and informed consent was obtained from the parents for Figure 1. Laboratory assessment revealed hemoglobin of 8.4 g/dL and reticulocytes of 1.3%, white blood count of 19,600/mm3 (35% eosinophils, 15% monocytes on differential blood count), platelet count of 33,000/mm3, and mean platelet volume (MPV) of 10 fL. The direct Coombs test was positive for warm antibodies, and a peripheral blood smear revealed marked eosinophils, monocytes, and immature myeloid cells and giant platelets. Bone marrow examination showed myeloid hyperplasia with eosinophilia. Baseline immunoglobulin (Ig) levels were normal (IgG 317 mg/dL, IgA 14 mg/dL, and IgM 87 mg/dL). The patient was diagnosed with autoimmune hemolytic anemia and had additional diagnostic criteria that suggested JMML and WAS. He was started on prednisone at 1 mg/kg twice daily. Three weeks after initial presentation, he developed shortness of breath, fatigue, and palpitations. He developed a severe pulmonary infection that was successfully treated with trimethoprimsulfamethoxazole and ganciclovir. A PCR test for CMV was positive, with 9700 copies/mL. Molecular genetic analysis revealed a novel mutation in the WAS gene, c.271C>T(p.Q91X). The patient was diagnosed with WAS. He was scheduled for allogeneic stem cell transplantation from an unrelated donor.

A Novel Mutation in a Child with Atypical Wiskott-Aldrich Syndrome Complicated by Cytomegalovirus Infection