Article
Molecular Diagnostic Challenges and Complex Management of Consecutive Twin Pregnancies in a Family with CD40 Ligand Deficiency.
Scandinavian journal of immunology - 1 Feb 2012
Török O, Tóth B, Erdős M, Csorba G, Gyimesi E, Balogh I, Tóth Z, Maródi L
Abstract excerpt
X-linked hyper-IgM syndrome (XHIGM) is a primary immunodeficiency disorder (PID) 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 singleton pregnancies. In addition, women with twin pregnancies may decide on selective termination for which the risk of loss of the healthy...
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