The structural basis of hyper IgM deficiency – CD40L mutations
نویسندگان
چکیده
منابع مشابه
Antibody deficiency with hyper IgM--a case report.
A 20-month-old Indian boy presented with recurrent pyogenic infections and failure to thrive. His IgG and IgA levels were low, but his IgM was elevated. He also had undetectable isohaemagglutinin titre and neutropenia, both parameters being poor prognostic indicators in this very rare primary immunodeficiency state--antibody deficiency with hyper IgM. Our patient subsequently succumbed to Pseud...
متن کاملTargeted gene editing restores regulated CD40L function in X-linked hyper-IgM syndrome.
Loss of CD40 ligand (CD40L) expression or function results in X-linked hyper-immunoglobulin (Ig)M syndrome (X-HIGM), characterized by recurrent infections due to impaired immunoglobulin class-switching and somatic hypermutation. Previous attempts using retroviral gene transfer to correct murine CD40L expression restored immune function; however, treated mice developed lymphoproliferative diseas...
متن کاملMutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.
CD40 is a member of the tumor necrosis factor receptor superfamily, expressed on a wide range of cell types including B cells, macrophages, and dendritic cells. CD40 is the receptor for CD40 ligand (CD40L), a molecule predominantly expressed by activated CD4(+) T cells. CD40/CD40L interaction induces the formation of memory B lymphocytes and promotes Ig isotype switching, as demonstrated in mic...
متن کاملHyper IgM syndrome and complement Clq deficiency in an individual with systemic lupus erythematosus-like disease.
Many immunedeficiency syndromes are associated with autoimmune disorders. We here report on a girl with a systemic lupus erythematosus-like disease who suffered from both hyperimmunoglobulin M syndrome (HIGMS) and C1q deficiency. Despite severe central nervous system-lupus like disease, probably due to C1q deficiency, kidney function was relatively spared. IgM autoantibody might play a protecti...
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ژورنال
عنوان ژورنال: Protein Engineering, Design and Selection
سال: 2007
ISSN: 1741-0134,1741-0126
DOI: 10.1093/protein/gzm004