X-linked Hyper IgM (HIGM1) in an African kindred: the first report from South Africa

 

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dc.contributor.author Pienaar, Sandra en_ZA
dc.contributor.author Eley, Brian en_ZA
dc.contributor.author Hughes, Jane en_ZA
dc.contributor.author Henderson, Howard en_ZA
dc.date.accessioned 2015-10-12T11:01:07Z
dc.date.available 2015-10-12T11:01:07Z
dc.date.issued 2003 en_ZA
dc.identifier.citation Pienaar, S., Eley, B. S., Hughes, J., & Henderson, H. E. (2003). X-linked hyper IgM (HIGM1) in an African kindred: the first report from South Africa. BMC pediatrics, 3(1), 12. en_ZA
dc.identifier.uri http://hdl.handle.net/11427/14214
dc.identifier.uri http://dx.doi.org/10.1186/1471-2431-3-12
dc.description.abstract BACKGROUND:The objective of this study was to describe the clinical and molecular features of the first South African family with X-linked hyper-IgM syndrome (HIGM1). METHODS: Diagnoses were based on immunoglobulin results and the absence of CD40 ligand (CD40L) expression on activated T-cells. Complete molecular characterisation involved CD40L cDNA sequencing, and genomic DNA analysis by polymerase chain reaction amplification, restriction enzyme digestion and sequencing. A PCR-based diagnostic assay was established for carrier detection and prenatal diagnosis in this family. RESULTS: There were originally six children, three males and three females. The eldest boy died after being diagnosed with hypogammaglobulinaemia, before HIGM1 was considered. This disorder was diagnosed in the second eldest boy at the age of 5 years, after failing to detect CD40L expression on his activated T-cells. A deficiency of CD40L was also confirmed in the youngest male at the age of 5 years. Both younger brothers have since died of infections relating to HIGM1. Molecular investigation showed that exon 3 was deleted from the CD40L mRNA of the affected males. Genomic DNA analysis identified a 1.5 kilobase deletion, spanning exon 3 and including extended flanking intronic sequence. Carrier status in the mother was confirmed by RT-PCR of her CD40L mRNA. Genetic analysis of the three female children was deferred because they were below the legal consenting age of 18 years. A PCR-based assay for genomic DNA was established for easy identification of female carriers and affected males in the future. CONCLUSIONS: This study confirmed the diagnosis of HIGM1 in the first South African family to be investigated and identified a novel mutation in the CD40L gene. en_ZA
dc.language.iso eng en_ZA
dc.publisher BioMed Central Ltd en_ZA
dc.rights This is an Open Access article distributed under the terms of the Creative Commons Attribution License en_ZA
dc.rights.uri http://creativecommons.org/licenses/by/2.0 en_ZA
dc.source BMC Pediatrics en_ZA
dc.source.uri http://www.biomedcentral.com/1471-2431 en_ZA
dc.title X-linked Hyper IgM (HIGM1) in an African kindred: the first report from South Africa en_ZA
dc.type Journal Article en_ZA
uct.type.publication Research en_ZA
uct.type.resource Article en_ZA
dc.publisher.institution University of Cape Town
dc.publisher.faculty Faculty of Health Sciences en_ZA
dc.publisher.department Department of Paediatrics and Child Health en_ZA
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This is an Open Access article distributed under the terms of the Creative Commons Attribution License Except where otherwise noted, this item's license is described as This is an Open Access article distributed under the terms of the Creative Commons Attribution License