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- W2987991000 abstract "The hyper-immunoglobulin M (HIGM) syndromes are a group of immunodeficiencies that exhibit low or absent levels of immunoglobulin G (IgG), IgA, and IgE and normal to high levels of IgM. 1 Notarangelo L.D. Duse M.A. Ugazio A.G. Immunodeficiency with hyper-IgM (HIM). Immunodefic Rev. 1992; 3: 101-121 PubMed Google Scholar These syndromes are characterized by inherited defects in genes encoding for the CD40L or CD40 molecule, or defects in class-switch recombination (CSR) in B cells. 2 Leven E.A. Maffucci P. Ochs H.D. et al. Hyper IgM syndrome: a report from the USIDNET registry. J Clin Immunol. 2016; 36: 490-501 Crossref PubMed Scopus (61) Google Scholar Activation-induced cytidine deaminase (AID) is a protein that is required for CSR in B cell differentiation. 3 Imai K. Zhu Y. Revy P. et al. Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2. Clin Immunol. 2005; 115: 277-285 Crossref PubMed Scopus (90) Google Scholar ,4 Maul R.W. Gearhart P.J. AID and somatic hypermutation. Adv Immunol. 2010; 105: 159-191 Crossref PubMed Scopus (148) Google Scholar A mutation in the activation-induced cytidine deaminase (AICDA) gene that encodes AID causes the autosomal recessive (AR) form of HIGM syndrome known as HIGM2. 2 Leven E.A. Maffucci P. Ochs H.D. et al. Hyper IgM syndrome: a report from the USIDNET registry. J Clin Immunol. 2016; 36: 490-501 Crossref PubMed Scopus (61) Google Scholar ,5 Revy P. Muto T. Levy Y. et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2). Cell. 2000; 102: 565-575 Abstract Full Text Full Text PDF PubMed Scopus (1295) Google Scholar This syndrome results in recurrent sinopulmonary infections by encapsulated bacteria, meningitis, gastrointestinal infections, lymphoid hyperplasia, and autoimmune conditions. 2 Leven E.A. Maffucci P. Ochs H.D. et al. Hyper IgM syndrome: a report from the USIDNET registry. J Clin Immunol. 2016; 36: 490-501 Crossref PubMed Scopus (61) Google Scholar We report a case of a novel autosomal dominant (AD) mutation in the AID gene that has not been previously reported." @default.
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- W2987991000 date "2021-02-01" @default.
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- W2987991000 title "A novel activation-induced cytidine deaminase mutation in an adult with hyper-immunoglobulin M syndrome" @default.
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- W2987991000 doi "https://doi.org/10.1016/j.anai.2020.10.016" @default.
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