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Rapid Flow Cytometric Prenatal Diagnosis of Primary Immunodeficiency (PID) Disorders.
MedLine Citation:
PMID:  24535004     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
OBJECTIVES: Primary Immunodeficiency diseases (PID) are a heterogeneous group of inherited disorders of immune system. Immunophenotypic evaluation of PIDs using flowcytometry provides important clues for diagnosis of these disorders, though confirmation requires identification of underlying molecular defects. Prenatal diagnosis (PND) forms an important component of management in families affected with severe PID. However, molecular diagnostic facilities for each of these diseases are not available and may not be possible to perform in all cases. In such scenario we opted for phenotypic prenatal diagnosis by cordocentesis for families with index case having immunophenotypically well characterized PID.
METHODS: Normal reference ranges of lymphocyte subsets, CD 18/CD11 integrins on leukocytes, MHC class II expression and oxidative burst activity of fetal neutrophils at 18 weeks of gestation were previously established on 30 cord blood samples. PND was performed in 13 families with PIDs. Maternal contamination was ruled out by VNTR analysis.
RESULTS: Out of 13 fetuses, nine were found to be unaffected (three cases with leukocyte adhesion deficiency (LAD-I), four cases with severe combined immunodeficiency diseases (SCID), one with X-linked agammaglobulinemia (XLA), and one with chronic granulomatous disease (CGD)] and three were found to be affected (one with T-B+NK-SCID, one with MHC class II deficiency and one with LAD-I). Diagnosis was confirmed by testing the cord blood samples after delivery and further follow-up of the children. In one family diagnosis could not be offered due to maternal contamination. No procedure related complications were observed.
CONCLUSION: Flowcytometry offers rapid and sensitive method for prenatal diagnosis and genetic counseling for selected phenotypically well characterized PID in cases where molecular diagnostic facilities are not available.
Authors:
Anju Mishra; Maya Gupta; Aparna Dalvi; Kanjaksha Ghosh; Manisha Madkaikar
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-2-18
Journal Detail:
Title:  Journal of clinical immunology     Volume:  -     ISSN:  1573-2592     ISO Abbreviation:  J. Clin. Immunol.     Publication Date:  2014 Feb 
Date Detail:
Created Date:  2014-2-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8102137     Medline TA:  J Clin Immunol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
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