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

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 dia

SUBMITTER: Pienaar S 

PROVIDER: S-EPMC317313 | biostudies-literature | 2003 Nov

REPOSITORIES: biostudies-literature