This report examines the clinical utility of CD40LG genotyping for confirming a diagnosis of X-linked hyper-IgM (immunoglobulin M [IgM]) immunodeficiency syndrome type 1 (HIGM1) in patients with a clinical presentation of HIGM1; and for testing family members of a known HIGM1 proband for CD40LG variants to reduce morbidity and mortality in at-risk individuals. The evidence for the use of CD40LG genotyping is evaluated in comparison with other recommended confirmatory tests, with consideration of the implied impact of early and accurate diagnosis on HIGM1 morbidity and mortality outcomes. Family members of confirmed HIGM1 patients may be genotyped for the family variant to detect other affected individuals, female variant carriers, and to aid in other aspects of reproductive decision-making. The evidence for genotyping family members and impact on morbidity and mortality, or on reproductive decision-making, is also summarized.

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