Hyper IgM syndrome is a rare immunodeficiency disease characterized by low or absent IgG, IgA, and IgE levels but normal or elevated level of IgM. It can occur as an acquired form or X linked or autosomal mode of in...Hyper IgM syndrome is a rare immunodeficiency disease characterized by low or absent IgG, IgA, and IgE levels but normal or elevated level of IgM. It can occur as an acquired form or X linked or autosomal mode of inheritance. The X linked form (HIGM1) is a result of mutations in the CD40L ligand (CD40L) gene. We investigate the expression of CD40L on activated T cells from a sporadic male case of HIM with no family history and the B cell function in response to anti CD40L mAb and cytokines. Staining of CD40L on activated T cells from the patient is negative with recently developed anti human CD40L mAb, M90 and M92. The low expression of CD40L on activated T cells from the patient′s mother is also detected. Sequencing of CD40L coding region reveals a 4 bp deletion within the CD40L binding domain. These results indicate that the patient has X linked inheritance pattern (XIGM1). CD40L mAb alone could induce the patient′s PBMCs to secret markedly IgG. Our data suggest that the detection of CD40L expression on ativated T cells may be used to identify sporadic cases of HIM as HIGM1.展开更多
文摘Hyper IgM syndrome is a rare immunodeficiency disease characterized by low or absent IgG, IgA, and IgE levels but normal or elevated level of IgM. It can occur as an acquired form or X linked or autosomal mode of inheritance. The X linked form (HIGM1) is a result of mutations in the CD40L ligand (CD40L) gene. We investigate the expression of CD40L on activated T cells from a sporadic male case of HIM with no family history and the B cell function in response to anti CD40L mAb and cytokines. Staining of CD40L on activated T cells from the patient is negative with recently developed anti human CD40L mAb, M90 and M92. The low expression of CD40L on activated T cells from the patient′s mother is also detected. Sequencing of CD40L coding region reveals a 4 bp deletion within the CD40L binding domain. These results indicate that the patient has X linked inheritance pattern (XIGM1). CD40L mAb alone could induce the patient′s PBMCs to secret markedly IgG. Our data suggest that the detection of CD40L expression on ativated T cells may be used to identify sporadic cases of HIM as HIGM1.
