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X-linked inhibitor of apoptosis (XIAP) deficiency caused by mutations in BIRC4 was initially described in patients with X-linked lymphoproliferative syndrome (XLP) who had no mutations in SH2D1A. In the initial reports, EBV-associated hemophagocytic lymphohistiocytosis (HLH) was the predominant clinical phenotype. Among 25 symptomatic patients diagnosed with XIAP deficiency, we identified 17 patients who initially presented with manifestations other than HLH. These included Crohn-like bowel disease (n=6), severe infectious mononucleosis (n=4), isolated splenomegaly (n=3), uveitis (n=1), periodic fever (n=1), fistulating skin abscesses (n=1) and severe Giardia enteritis (n=1). Subsequent manifestations included celiac-like disease, antibody deficiency, splenomegaly and partial HLH. Screening by flow cytometry identified 14 of 17 patients in our cohort. However, neither genotype nor protein expression nor results from cell death studies were clearly associated with the clinical phenotype. Only mutation analysis can reliably identify affected patients. XIAP deficiency must be considered in a wide range of clinical presentations.

Original publication

DOI

10.1016/j.clim.2013.07.004

Type

Journal article

Journal

Clin Immunol

Publication Date

10/2013

Volume

149

Pages

133 - 141

Keywords

BIRC4, Hematopoietic stem cell transplantation, Hemophagocytic lymphohistiocytosis, Inflammatory bowel disease, XIAP, Adolescent, Adult, Child, Child, Preschool, Genotype, Humans, Immunologic Deficiency Syndromes, Lymphohistiocytosis, Hemophagocytic, Male, Mutation, Natural Killer T-Cells, Phenotype, X-Linked Inhibitor of Apoptosis Protein, Young Adult