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skos:definition |
MSH: A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation.,NCI: Immunodeficiency caused by mutations in the gene encoding the CD40 ligand. It is characterized by decreased levels of IgG, IgA, and IgE, and normal or increased levels of IgM. Patients are at an increased risk of infections and development of malignancies.,NCI: An immunodeficiency state characterized by very low serum IgG and IgA but either a normal or, more frequently, a markedly elevated concentration of polyclonal IgM.
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