X-linked lymphoproliferative syndrome. Identification of a large family in Switzerland

Details

Serval ID
serval:BIB_29265E41D819
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
X-linked lymphoproliferative syndrome. Identification of a large family in Switzerland
Journal
American Journal of Medicine
Author(s)
Hayoz  D., Lenoir  G. M., Nicole  A., Pugin  P., Regamey  C.
ISSN
0002-9343 (Print)
Publication state
Published
Issued date
03/1988
Volume
84
Number
3 Pt 1
Pages
529-34
Notes
Case Reports
Journal Article --- Old month value: Mar
Abstract
Observation of a patient with acquired hypogammaglobulinemia associated with a mononucleosis syndrome led to the identification of one of the largest families affected by the X-linked lymphoproliferative (XLP) syndrome in the world. It is the first such family identified in Switzerland and the largest in Europe. At least nine male subjects over two generations presented phenotypic expressions consistent with the XLP syndrome. Study of the pedigree extending over seven generations suggests that the mutation occurred in the proband's great-grandmother. In the next generation, a second mutation of the X chromosome in one branch of the family resulted in expression of hemophilia A in the children. This remarkably large family, comprising six living obligate female carriers, displays a wide spectrum of the XLP syndrome and offers valuable information for future genetic linkage studies and for genetic counseling.
Keywords
Adult Agammaglobulinemia/genetics Female Heterozygote Humans Infectious Mononucleosis/genetics *Linkage (Genetics) Lymphoproliferative Disorders/*genetics Male Mutation Pedigree Phenotype Switzerland Syndrome *X Chromosome
Pubmed
Web of science
Create date
17/01/2008 16:38
Last modification date
20/08/2019 13:08
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