X-linked lymphoproliferative disease due to XIAP deficiency

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Name:
X-linked lymphoproliferative disease due to XIAP deficiency
Description:
A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked XIAP gene, resulting in B cell lymphoproliferation and manifestating with various phenotypes which include EBV-driven hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, recurrent splenomegaly, hepatitis, colitis, and intestinal bowel disease with features of Crohn's disease. Additional manifestations include variable auto-inflammatory symptoms such as uveitis, arthritis, skin abscesses, erythema nodosum, and nephritis. Neurological involvement is rare and lymphoma is never observed. Laboratory findings include normal or increased activated T cells, low or normal iNKT cells, and normal or reduced memory B cells.
ORPHAcode:
538934
Synonyms:
X-linked lymphoproliferative syndrome type 2
XIAP deficiency syndrome
XLP2
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Analyte(s):
Created:
04 Feb 2020 - 15:13
Changed:
22 Jun 2023 - 16:14