Objective: We report on the neurocognitive profile of a 6-year-old female with Wiskott-Aldrich syndrome (WAS), a rare X-linked recessive primary immunodeficiency disorder associated with thrombocytopenia, autoimmune disorders, infection, and malignancy. WAS occurs almost exclusively in males and is extremely rare in females, with no known research focusing on cognitive and adaptive functioning in this population. Method: A newborn female, born prematurely at 35 weeks gestation, presented with thrombocytopenia and low birth weight. A bone marrow biopsy at 3 months of age indicated bone marrow failure with pancytopenia. At 15 months of age, the patient underwent a bone marrow transplant with myeloablative chemotherapy and was diagnosed with WAS shortly thereafter. Other concerns included feeding issues, multiple infections, and post-donor chimerism. With entry into senior kindergarten, concerns emerged about memory and academic achievement, and the child was referred for a neuropsychological assessment. Results: Administration of a battery of standardized measures was undertaken,...

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