"The Hyper IgM Syndrome-An Evolving Story". "Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)". ^ a b c d e Johnson, Judith Filipovich, Alexandra H.^ a b c d "X-linked Immunodeficiency With Hyper IgM Clinical Presentation: History, Physical, Causes". ^ "OMIM Entry - 608184 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4 HIGM4".^ a b "OMIM Entry - # 608106 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 HIGM5".^ a b "OMIM Entry - # 606843 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 HIGM3".^ a b "OMIM Entry - # 605258 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 HIGM2".^ a b "OMIM Entry - # 308230 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 HIGM1".Additionally, anti-microbial therapy, use of granulocyte colony-stimulating factor, immunosuppressants, as well as other treatments, may be needed. In terms of treatment for hyper IgM syndrome, there is the use of allogeneic hematopoietic cell transplantation. The diagnosis of hyper IgM syndrome can be done via the following methods and tests: Patients are more susceptible to infection. Consequently, humoral immune response is affected. When there is a defect in CD40, this leads to defective T-cell interaction with B cells. Pathophysiology ĬD40 is a costimulatory receptor on B cells that, when bound to CD40 ligand ( CD40L), sends a signal to the B-cell receptor. This results in an overproduction of IgM antibodies and an underproduction of IgA, IgG, and IgE. In people with hyper IgM syndromes, the B cells keep making IgM antibodies because can not switch to a different antibody. Healthy B cells efficiently switch to other types of antibodies as needed to attack invading bacteria, viruses, and other pathogens. IgM is the form of antibody that all B cells produce initially before they undergo class switching. PCP is one of the most frequent and severe opportunistic infections in people with weakened immune systems.ĭifferent genetic defects cause HIgM syndrome, the vast majority are inherited as an X-linked recessive genetic trait and most with the condition are male.
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