Details of Disease

General Information of Disease (ID: DISAMB1P)

Disease Name X-linked lymphoproliferative disease due to SH2D1A deficiency
Synonyms
Duncan disease; lymphoproliferative disease, X-linked; immunodeficiency, X-linked progressive combined variable; Purtilo syndrome; XLP1; Epstein-Barr Virus infection, familial fatal; lymphoproliferative syndrome, X-linked, 1; infectious mononucleosis, Severe, susceptibility to; Lyp; immunodeficiency 5; Xlp; EBV infection, Severe, susceptibility to; lymphoproliferative syndrome, X-linked, 1, X-linked recessive; X-linked lymphoproliferative disease due to SH2D1A deficiency
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.
Disease Hierarchy
DISHZGSA: X-linked recessive disease
DISA7MJ4: X-linked lymphoproliferative syndrome
DISAMB1P: X-linked lymphoproliferative disease due to SH2D1A deficiency
Disease Identifiers
MONDO ID
MONDO_0024551
UMLS CUI
C5399825
OMIM ID
308240
MedGen ID
1770239
Orphanet ID
538931
SNOMED CT ID
1162828001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SH2D1A OTLU49I5 Strong X-linked [1]
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References

1 Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease. Blood. 2000 Nov 1;96(9):3118-25.