Source:http://linkedlifedata.com/resource/pubmed/id/10556288
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
13
|
| pubmed:dateCreated |
2000-1-24
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| pubmed:databankReference | |
| pubmed:abstractText |
X-linked lymphoproliferative disease (XLP) is a primary immunodeficiency, which most often manifests itself after Epstein-Barr virus (EBV) infection. The main clinical phenotypes include fulminant or fatal infectious mononucleosis, dysgammaglobulinaemia and malignant lymphoma. We have recently cloned the SH2D1A gene, which has been shown to be mutated in approximately 70% of XLP patients. Now we report five novel SH2D1A mutations in patients from five unrelated XLP families. No mutations were found in another three XLP families. In three boys with early onset non-Hodgkin lymphoma (NHL) from two unrelated families a deletion of SH2D1A exon 1 and a splice site mutation were found, respectively. These patients did not show any laboratory or clinical signs of a previous EBV infection. A fourth EBV-uninfected and unrelated boy with a stop mutation in the SH2D1A gene shows only signs of dysgammaglobulinaemia. Development of dysgamma-globulinaemia and lymphoma without evidence of prior EBV infection in four of our patients suggests that EBV is unrelated to these phenotypes, in contrast to fulminant or fatal infectious mononucleosis. The role of SH2D1A as a putative tumour suppressor gene remains to be investigated.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Dec
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| pubmed:issn |
0964-6906
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| pubmed:author | |
| pubmed:issnType |
Print
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| pubmed:volume |
8
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
2407-13
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| pubmed:dateRevised |
2004-11-17
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| pubmed:meshHeading |
pubmed-meshheading:10556288-Carrier Proteins,
pubmed-meshheading:10556288-DNA Mutational Analysis,
pubmed-meshheading:10556288-Dysgammaglobulinemia,
pubmed-meshheading:10556288-Epstein-Barr Virus Infections,
pubmed-meshheading:10556288-Exons,
pubmed-meshheading:10556288-Gene Deletion,
pubmed-meshheading:10556288-Haplotypes,
pubmed-meshheading:10556288-Humans,
pubmed-meshheading:10556288-Infectious Mononucleosis,
pubmed-meshheading:10556288-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:10556288-Lymphoma, Non-Hodgkin,
pubmed-meshheading:10556288-Lymphoproliferative Disorders,
pubmed-meshheading:10556288-Male,
pubmed-meshheading:10556288-Molecular Sequence Data,
pubmed-meshheading:10556288-Pedigree,
pubmed-meshheading:10556288-Point Mutation,
pubmed-meshheading:10556288-RNA Splicing
|
| pubmed:year |
1999
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| pubmed:articleTitle |
Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP).
|
| pubmed:affiliation |
Department of Medical Genetics, LMU, 80336 München, Germany.
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| pubmed:publicationType |
Journal Article
|