Abstract Purpose The United States Immunodeficiency Network (USIDNET) patient registry
was used to characterize the presentation, genetics, phenotypes, and treatment of patients …

Hyper-IgM (HIGM) syndrome is a heterogeneous group of disorders characterized by normal
or elevated serum IgM levels associated with absent or decreased IgG, IgA and IgE. Here …

Hyper-IgM syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by
elevated or normal serum IgM and decreased IgG, IgA, and IgE due to defective …

Abstract Purpose Hyper-IgM syndrome due to CD40 deficiency (HIGM3) is a rare form of
primary immunodeficiency with few reported cases. In this study, we further characterize the …

Abstract Hyper Immunoglobulin M syndrome (HIGM) is a rare primary immunodeficiency
disorder characterized by low or absent levels of serum IgG, IgA, IgE and normal or …

Abstract Background Hyper-immunoglobulin M (HIGM) syndromes are a heterogeneous
group of primary immunodeficiency disorders, characterized by recurrent infections …

The primary immunodeficiency (PID) diseases comprise a heterogeneous group of inherited
disorders of immune function. Technical advancements in whole-genome, whole-exome …

Type 1 hyper-IgM syndrome (HIGM1) is a rare primary immunodeficiency disease caused by
mutations in the CD40L gene. Patients often present with recurrent infections and …

Abstract Introduction Immunodeficiency with hyper-IgM (HIGM) results from genetic defects
in the CD40–CD40 ligand (CD40L) pathway or in the enzymes required for immunoglobulin …

X‐linked hyper‐IgM syndrome (XHIGM) is one type of primary immunodeficiency diseases,
resulting from defects in the CD40 ligand/CD40 signaling pathways. We retrospectively …