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Journal of Clinical Immunology

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25.03.2022 | Commentary

Atypical Autosomal Recessive AID Deficiency—Yet Another Piece of the Hyper-IgM Puzzle

verfasst von: Erika Della Mina, Stuart G. Tangye

Erschienen in: Journal of Clinical Immunology | Ausgabe 4/2022

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To the Editor, …

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Durandy A, Kracker S. Immunoglobulin class-switch recombination deficiencies. Arthritis Res Ther. 2012;14(4):218. https://doi.org/10.1186/ar3904.CrossRefPubMedPubMedCentral

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Muramatsu M, Sankaranand VS, Anant S, Sugai M, Kinoshita K, Davidson NO, et al. Specific expression of activation-induced cytidine deaminase (AID), a novel member of the RNA-editing deaminase family in germinal center B cells. J Biol Chem. 1999;274(26):18470–6. https://doi.org/10.1074/jbc.274.26.18470.CrossRefPubMed

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Revy P, Muto T, Levy Y, Geissmann F, Plebani A, Sanal O, et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell. 2000;102(5):565–75. https://doi.org/10.1016/s0092-8674(00)00079-9.CrossRefPubMed

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Dirks J, Haase G, Cantaert T, Frey L, Klaas M, Rickert CH, et al. A novel AICDA splice-site mutation in two siblings with HIGM2 permits somatic hypermutation but abrogates mutational targeting. J Clin Immunol. 2022. https://doi.org/10.1007/s10875-022-01233-5.CrossRefPubMed

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Titel: Atypical Autosomal Recessive AID Deficiency—Yet Another Piece of the Hyper-IgM Puzzle
verfasst von: Erika Della Mina
Stuart G. Tangye
Publikationsdatum: 25.03.2022
Verlag: Springer US
Erschienen in: Journal of Clinical Immunology / Ausgabe 4/2022
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-022-01255-z

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