CD40 ligand (CD40L) expression and B cell function in agammaglobulinemia with normal or elevated levels of IgM (HIM). Comparison of X-linked, autosomal recessive, and non-X-linked forms of the disease, and obligate carriers.

摘要: Hyper-IgM syndrome is a rare immunodeficiency characterized by low or absent IgG, IgA, and IgE with normal elevated levels of IgM. It can occur as an acquired familial disorder either X-linked autosomal modes inheritance. The form (HIGM1) result mutations in the CD40 ligand (CD40L) gene, but defect non-X-linked forms disease (HIM) has not been determined. We show here that CD40L expression on activated T cells from patients be detected CD40Fc, 5c8 Mab, anti-TRAP, whereas HIGM1 had no detectable (Type I), stained anti-TRAP CD40Fc II). Activated obligate carriers varied to CD40L. B HIM proliferated response Costimulation HIGM1, sporadic HIM, plus IL-2 resulted some IgM production, significant IgG IgA. IL-10 and/or IgA secretion patients, consistently failed stimulate patients. In addition, costimulation IL-4 induce one patient, induced weak another. These results suggest may have intrinsic cell preventing heavy chain switching, which related