hyper-igm syndromes are characterized by profound reduction of serum igg, iga, and ige levels with normal or increased concentrations of serum igm. cd40 ligand deficiency is x-linked form of the disease, which results in a lack of immunoglobulin class switching from igm to igg in b cells. in addition to the recurrent infections, a number of patients suffer from neutropenia. there are some evide...

background: defects in b cell class switch recombination (csr) are a heterogeneous and yet very uncommon group of disorders which all have a genetic basis uniformly leading to hyper igm (higm) syndrome. due to the rare frequency of these conditions, a very small number of case series have been conducted on the affected patients. objective: to shed some light on the morbidity and mortality regar...

immunoglobulin class switch recombination deficiencies (ig csr deficiencies) or hyper igm syndromes (higm) are a group of primary immunodeficiency diseases, characterized by defective cd40 signaling of b cells resulting into a csr and a somatic hypermutation. the affected patients are characterized with reduced serum levels of igg and iga, and normal or elevated level of igm, which lead to incr...

Recent studies show that most patients with X-linked hyper IgM syndrome have defects in the gene for CD40 ligand. We evaluated 17 unrelated males suspected of having X-linked hyper IgM syndrome. Activated T cells from 13 of the 17 patients failed to bind a soluble CD40 construct. In these patients, the sequence of CD40 ligand demonstrated mutations. By contrast, T cells from the remaining four ...

We report a 5 years old male child with low serum IgG, IgA and IgM levels, who presented with recurrent perianal and oral ulcers, intermittent fever, and protracted diarrhea. Despite the lack of typical respiratory symptoms, low serum IgM level and persistent thrombocytosis, an X-linked hyper-IgM syndrome (X-HIGM) was considered. Laboratory investigations revealed a diagnosis of hyper-IgM syndr...