/X-linked lymphoproliferative disease due to SH2D1A deficiency

X-linked lymphoproliferative disease due to SH2D1A deficiency

Rare Disease

MONDO:0024551

Also Known As

X-linked lymphoproliferative disease due to SH2D1A deficiencylymphoproliferative syndrome, X-linked, 1, X-linked recessiveDuncan diseaseEBV infection, Severe, susceptibility toEpstein-Barr Virus infection, familial fatalLypPurtilo syndromeXLP1Xlpimmunodeficiency 5immunodeficiency, X-linked progressive combined variableinfectious mononucleosis, Severe, susceptibility tolymphoproliferative disease, X-linkedlymphoproliferative syndrome, X-linked, 1

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 SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.