Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.
Nat Genet
; 20(2): 129-35, 1998 Oct.
Article
in En
| MEDLINE
| ID: mdl-9771704
ABSTRACT
X-linked lymphoproliferative syndrome (XLP or Duncan disease) is characterized by extreme sensitivity to Epstein-Barr virus (EBV), resulting in a complex phenotype manifested by severe or fatal infectious mononucleosis, acquired hypogammaglobulinemia and malignant lymphoma. We have identified a gene, SH2D1A, that is mutated in XLP patients and encodes a novel protein composed of a single SH2 domain. SH2D1A is expressed in many tissues involved in the immune system. The identification of SH2D1A will allow the determination of its mechanism of action as a possible regulator of the EBV-induced immune response.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Carrier Proteins
/
Herpesvirus 4, Human
/
Herpesviridae Infections
/
Src Homology Domains
/
Intracellular Signaling Peptides and Proteins
/
Lymphoproliferative Disorders
/
Mutation
Type of study:
Prognostic_studies
Limits:
Female
/
Humans
/
Male
Language:
En
Journal:
Nat Genet
Journal subject:
GENETICA MEDICA
Year:
1998
Type:
Article
Affiliation country:
United kingdom