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...

lps-responsive beige-like anchor (lrba) deficiency is a disease which has recently been described in a group of patients with common variable immunodeficiency (cvid) in association with autoimmunity and/or inflammatory bowel disease (ibd)-like phenotype. we here describe a 10-year-old boy who experienced recurrent infections, mainly in the respiratory system, associated with thrombocytopenia an...

Mehmet Halil Celiksoy1, Stephan Borte2, Aydan İkincioğulları3, Meltem Ceyhan Bilgici4, Filiz Karagöz5, Ayhan Gazi Kalaycı6, Alişan Yıldıran3 1Ondokuz Mayıs University Faculty of Medicine, Department of Pediatric Allergy and Immunology, Samsun, Turkey 2Leipzig University Faculty of Medicine, Department of Clinical Immunolgy, Leipzig, Germany 3Ankara University Faculty of Medicine, Department of ...

ReUirns to seniority account for a subslantial share of public K-12 expenditures. Over the first ten to 15 years of a career, public school teachers enjoy average wa^e growth al least equivalent to that of other white-coltar workers. ELxplanatians for Ihis structure in terms of human capital or costly monitoring tack theoretical and empirical support. A steeper wageleniire profile reduces tumov...

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 ...