|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
5
|
|
pubmed:dateCreated |
1996-1-17
|
|
pubmed:abstractText |
X-linked lymphoproliferative disease (XLP) is a rare worldwide occurring inherited immunodeficiency which is triggered by Epstein-Barr virus infection. Clinical phenotypes in 21 affected males from 5 German families with XLP ranged from severe and fatal infectious mononucleosis (57%) to acquired hypogammaglobulinaemia (28%), malignant lymphoma (28%), aplastic anaemia (19%) and hypergammaglobulinaemia M (19%). Molecular genetic studies with various polymorphic X-chromosomal DNA markers in 14 XLP families mapped the XLP gene locus to Xq25-q26. Haplotype analysis enables detection of XLP-positive and XLP-negative males already before EBV-infection as well as diagnosis of healthy female carriers within XLP families.
|
|
pubmed:language |
ger
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
0300-8630
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
207
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
271-6
|
|
pubmed:dateRevised |
2010-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:7500602-Child,
pubmed-meshheading:7500602-Child, Preschool,
pubmed-meshheading:7500602-Chromosome Mapping,
pubmed-meshheading:7500602-DNA Probes,
pubmed-meshheading:7500602-Female,
pubmed-meshheading:7500602-Genes, Recessive,
pubmed-meshheading:7500602-Genetic Linkage,
pubmed-meshheading:7500602-Genetic Markers,
pubmed-meshheading:7500602-Haplotypes,
pubmed-meshheading:7500602-Herpesvirus 4, Human,
pubmed-meshheading:7500602-Heterozygote Detection,
pubmed-meshheading:7500602-Humans,
pubmed-meshheading:7500602-Infectious Mononucleosis,
pubmed-meshheading:7500602-Lymphoproliferative Disorders,
pubmed-meshheading:7500602-Male,
pubmed-meshheading:7500602-Pedigree,
pubmed-meshheading:7500602-Phenotype,
pubmed-meshheading:7500602-Sex Chromosome Aberrations,
pubmed-meshheading:7500602-X Chromosome
|
|
pubmed:articleTitle |
[X-chromosome recessive lymphoproliferative disease (XLP): molecular genetic studies].
|
|
pubmed:affiliation |
Kinderklinik, Universität Würzburg.
|
|
pubmed:publicationType |
Journal Article,
English Abstract,
Research Support, Non-U.S. Gov't
|
