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- W1943438164 abstract "X-linked immunodeficiency with hyper-IgM (XHIGM or HIGM1) is a rare form of primary immunodeficiency disease caused by mutations in the gene that codes for CD40 ligand (CD40L, also known as gp39, TNFSF5 and CD154). CD40L is expressed on activated CD4+T cells and interacts with CD40 on the surface of B cells. This interaction induces B cells to undergo immunoglobulin (Ig) class-switching from IgM to IgG, IgA, and IgE. Patients with XHIGM exhibit profoundly depressed B-cell activation, fail to form germinal centers, have markedly reduced levels of IgG, IgA, and IgE but have normal or elevated levels of IgM. Because CD40L is required in the functional maturation of T lymphocytes and macrophages, patients with XHIGM also have a variable defect in T-lymphocyte and macrophage effector function. The range of clinical findings of XHIGM varies, even within the same family. Patients with XHIGM have increased susceptibility to infection with a wide variety of bacteria, viruses, fungi, and parasites. XHIGM usually presents in infancy with recurrent upper and lower respiratory tract bacterial infections, opportunistic infections, and recurrent or protracted diarrhea caused by Cryptosporidium parvum which is associated with failure to thrive. Neutropenia, thrombocytopenia, and anemia are common. Malignancies, Significant neurologic complications, oral ulcers, autoimmune and/or inflammatory disorders, such as sclerosing cholangitis, liver diseases including hepatitis, primary cirrhosis and carcinomas and tumors of the gastrointestinal tract have been reported.Keywords: Hyper-IgM Immunodeficiency syndrome, Type1; Immunologic deficiency syndromes; CD40 ligand.," @default.
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- W1943438164 date "2010-12-15" @default.
- W1943438164 modified "2023-09-26" @default.
- W1943438164 title "Molecular and Clinical Aspects of X-linked Immunodeficiency with Hyper-IgM Syndrome" @default.
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