| http://purl.uniprot.org/citations/11817328 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11817328 | http://www.w3.org/2000/01/rdf-schema#comment | "Hyper-IgM (HIM) syndrome is a rare immunodeficiency characterized by low or absent IgG, IgA, and IgE with normal or elevated levels of IgM. This disorder can be acquired or familial with either X-linked or autosomal patterns of inheritance. The X-linked form of the disease is a consequence of mutations in the CD40 ligand (CD40L) gene that encodes a protein expressed primarily on activated CD4+ T cells. The cognate interaction between CD40L on T cells and CD40 on antigen-stimulated B cells, macrophage, and dendritic cells is critical for the development of a comprehensive immune response. The non-X-linked form of HIM syndrome is heterogeneous and appears in some cases to be a consequence of mutations in the AlD gene which encodes a B cell specific protein required for class switch recombination, somatic mutation, and germinal center formation. However, mutations in other unidentified genes are clearly the basis of the disease in a subset of patients. In this article, we review the essential features of the X-linked and non-X-linked forms of HIM syndrome and discuss the critical role the CD40:CD40L receptor-ligand pair plays in the pathogenesis of these immune deficiencies."xsd:string |
| http://purl.uniprot.org/citations/11817328 | http://purl.org/dc/terms/identifier | "doi:10.1385/ir:24:3:311"xsd:string |
| http://purl.uniprot.org/citations/11817328 | http://purl.uniprot.org/core/author | "Bhushan A."xsd:string |
| http://purl.uniprot.org/citations/11817328 | http://purl.uniprot.org/core/author | "Covey L.R."xsd:string |
| http://purl.uniprot.org/citations/11817328 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11817328 | http://purl.uniprot.org/core/name | "Immunol Res"xsd:string |
| http://purl.uniprot.org/citations/11817328 | http://purl.uniprot.org/core/pages | "311-324"xsd:string |
| http://purl.uniprot.org/citations/11817328 | http://purl.uniprot.org/core/title | "CD40:CD40L interactions in X-linked and non-X-linked hyper-IgM syndromes."xsd:string |
| http://purl.uniprot.org/citations/11817328 | http://purl.uniprot.org/core/volume | "24"xsd:string |
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