[X-chromosome recessive lymphoproliferative disease (XLP): molecular genetic studies].
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.
Schuster
V
V
Kinderklinik, Universität Würzburg.
Grimm
T
T
Kress
W
W
Seidenspinner
S
S
Belohradsky
B H
BH
Müller
P
P
Kreth
H W
HW
D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D015342:DNA Probes; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006580:Genetic Carrier Screening; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006239:Haplotypes; D004854:Herpesvirus 4, Human / Q000235:genetics; D006801:Humans; D007244:Infectious Mononucleosis / Q000235:genetics; D008232:Lymphoproliferative Disorders / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome
D015342:DNA Probes; D005819:Genetic Markers