Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease.

Article

Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease.

Blood - 1 Nov 2000

Sumegi J, Huang D, Lanyi A, Davis J D, Seemayer T A, Maeda A, Klein G, Seri M, Wakiguchi H, Purtilo D T, Gross T G

Abstract excerpt

The purposes of this study were to determine the frequency of mutations in SH2D1A in X-linked lymphoproliferative disease (XLP) and the role of SH2D1A mutations and Epstein-Barr virus (EBV) infection in determining the phenotype and outcome of patients with XLP. Analysis of 35 families from the XLP Registry revealed 28 different mutations in 34 families-large genomic deletions (n = 3), small intragenic deletions...

Topics

Alternative Splicing
Amino Acid Sequence
Carrier Proteins
Chromosome Mapping
Epstein-Barr Virus Infections
Exons
Female
Genetic Markers
Humans
Intracellular Signaling Peptides and Proteins

Introns

Lymphoproliferative Disorders

Male

Molecular Sequence Data

Mutation

Mutation, Missense

Pedigree

Phenotype

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.