X-linked hyper IgM syndrome with a novel CD40-ligand gene mutation suffered from infection of Talaromyces marneffei

Background

X-linked Hyper-IgM Syndrome (X-HIGM) is a primary immunodeficiency caused by pathogenic variants in CD40L. Loss of functional CD40 ligand interferes with T-cell-dependent B-cell responses and immunoglobulin class-switch recombination, resulting in susceptibility to recurrent and opportunistic infections. Because CD40L is located on the X chromosome, X-HIGM is usually diagnosed in males. Symptomatic females are rare, and the clinical and immunological features of these patients have not been well defined.