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Molecular diagnostic challenges and complex management of consecutive twin pregnancies in a family with CD40 ligand deficiency.
MedLine Citation:
PMID:  21958324     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
X-linked hyper-IgM syndrome (XHIGM) is a primary immunodeficiency disorder caused by mutation in the gene encoding the CD40 ligand (CD40L) expressed on activated T cells. Prenatal genotyping in carriers with twin pregnancies is more challenging than in women with single pregnancies. In addition, women with twin pregnancies may decide on selective termination for which the risk of loss of the healthy fetus may exceed 7%. We report here on a family affected by XHIGM. Diagnosis of the disease was made in a male patient as late as 33 years of age. After family screening the sister of the proband conceived male twins in 2 consecutive pregnancies. In the first pregnancy, one of the male fetuses was hemizygous for the c.521A>G (Q174R) mutation in the CD40L gene. In the second pregnancy, ultrasound scan showed one fetus to have exencephaly and karyotyping revealed this fetus to have trisomy 18. Several options were discussed, but the parents decided on selective termination in both pregnancies. The interventions were successful in both cases and the mother now has two healthy sons. This report demonstrates the way in which advanced technologies in molecular medicine and obstetric interventions may assist families with decisions about possible selective termination in cases of life-threatening molecular or chromosomal disorders. The diagnosis of CD40L deficiency at the age of 33 year in the proband was striking and indicated that PIDs are still neglected as disease entities in the evaluation of patients with recurrent severe infectious diseases.
Authors:
Olga Török; Beáta Tóth; Melinda Erdős; Gabriella Csorba; Edit Gyimesi; István Balogh; Zoltán Tóth; László Maródi
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-9-29
Journal Detail:
Title:  Scandinavian journal of immunology     Volume:  -     ISSN:  1365-3083     ISO Abbreviation:  -     Publication Date:  2011 Sep 
Date Detail:
Created Date:  2011-9-30     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0323767     Medline TA:  Scand J Immunol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 Blackwell Publishing Ltd.
Affiliation:
Departments of Obstetrics and Gynecology Infectious and Pediatric Immunology Internal Medicine Laboratory Medicine, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary.
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