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1996-02-27
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Document 0329
DOCN M9630329
TI [X-chromosome recessive lymphoproliferative disease (XLP): molecular
genetic studies]
DT 9603
AU Schuster V; Grimm T; Kress W; Seidenspinner S; Belohradsky BH; Muller P;
Kreth HW; Kinderklinik, Universitat Wurzburg.
SO Klin Padiatr. 1995 Sep-Oct;207(5):271-6. Unique Identifier : AIDSLINE
MED/96058829
AB 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.
DE Child Child, Preschool Chromosome Mapping DNA Probes/DIAGNOSTIC USE
English Abstract Female Genes, Recessive/*GENETICS Genetic
Markers/GENETICS Haplotypes Herpesvirus 4, Human/GENETICS
Heterozygote Detection Human Infectious Mononucleosis/GENETICS
Linkage (Genetics)/*GENETICS Lymphoproliferative Disorders/*GENETICS
Male Pedigree Phenotype Sex Chromosome Abnormalities/*GENETICS
Support, Non-U.S. Gov't *X Chromosome JOURNAL ARTICLE
SOURCE: National Library of Medicine. NOTICE: This material may be
protected by Copyright Law (Title 17, U.S.Code).