Document Detail

Prenatal diagnosis of severe combined immunodeficiency with defective synthesis of HLA molecules.
MedLine Citation:
PMID:  3823004     Owner:  NLM     Status:  MEDLINE    
The immunodeficiency associated with a defective expression of HLA molecules is an autosomal recessive disorder leading to death during childhood. We have performed prenatal diagnosis for six fetuses at risk for this disease by membrane immunofluorescence on blood lymphocytes and monocytes, using specific monoclonal antibodies for HLA class I and II molecules. Two pregnancies have been found to be affected. The diagnosis has been confirmed on each abortus by the study of the membrane expression of HLA class I and II molecules on blood lymphocytes and monocytes, and on thymic and splenic cells. The four other cases were found to be normal both during pregnancy and after birth. The detection of the defect as early as the 20th week of gestation allows selective termination.
A Durandy; N Cerf-Bensussan; Y Dumez; C Griscelli
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  7     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1987  
Date Detail:
Created Date:  1987-03-30     Completed Date:  1987-03-30     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  27-34     Citation Subset:  IM    
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MeSH Terms
Fetal Diseases / genetics,  immunology*
HLA Antigens / analysis*
Immunologic Deficiency Syndromes / genetics,  immunology*
Pregnancy Trimester, Second
Prenatal Diagnosis*
Reg. No./Substance:
0/HLA Antigens

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