A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families

This study enhances our understanding of the pathogenetic mutation spectrum ofCD40L andDOCK8 genes, facilitating the prenatal diagnosis of X-HIGM and HIES and enabling timely treatment of patients.

Source: Immunogenetics - April 8, 2024 Category: Genetics & Stem Cells Source Type: research