X-linked lymphoproliferative disease due to XIAP deficiency

What is X-linked lymphoproliferative disease due to XIAP deficiency?

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.

Other condition names

  • X-linked lymphoproliferative syndrome type 2
  • XIAP deficiency syndrome
  • XLP2

Inheritance type

X-linked recessive


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Adolescent
  • Adult
  • Childhood
  • Infancy
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