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X-linked lymphoproliferative disease due to XIAP deficiency

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • X-linked lymphoproliferative syndrome type 2
    • XIAP deficiency syndrome
    • XLP2
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Childhood, Adolescent, Adult
  • ICD-10: D82.3
  • OMIM: 300635
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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