X-linked lymphoproliferative syndrome

Also known as: Duncan disease; XLP

Severe EBV-driven immune dysregulation in males.

Medical specialty: Hematology
Subspecialty: Hematology / Lymphoproliferative disorders
Sex & age distribution: Male: affected; Female: carriers; Children: yes, school age
Gene(s) involved: SH2D1A, XIAP

Etiology & mechanism

SH2D1A (XLP1) or XIAP (XLP2) deficiency.

Gene(s) involved (2)

SH2D1AXIAP

Symptoms & signs (5)

fulminant infectious mononucleosishlhhypogammaglobulinemiainflammatory bowel diseaselymphoma

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