Abstract
Deficiency of X-linked inhibitor of apoptosis (XIAP) caused by mutations in XIAP (also known as BIRC4) is a cause of X-linked lymphoproliferative disease,1 characterized by Epstein Barr virus (EBV)-associated hemophagocytic lymphohistiocytosis and hypogammaglobulinemia. Patients with XIAP deficiency also suffer from increased risk of inflammatory conditions such as inflammatory bowel disease (IBD), liver disease, uveitis, erythema nodosum, and arthritis.2-4 Here, we describe a female carrier of an incidentally found pathogenic XIAP mutation with normal lyonization, and her asymptomatic brother.
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More From: The Journal of Allergy and Clinical Immunology: In Practice
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