A Novel AICDA Splice-Site Mutation in Two Siblings with HIGM2 Permits Somatic Hypermutation but Abrogates Mutational Targeting

Hyper-IgM syndrome type 2 (HIGM2) is a B cell intrinsic primary immunodeficiency caused by mutations in AICDA encoding activation-induced cytidine deaminase (AID) which impair immunoglobulin class switch recombination (CSR) and somatic hypermutation (SHM). Whereas autosomal-recessive AID-deficiency...

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Detalles Bibliográficos
Autores principales: Dirks, Johannes, Haase, Gabriele, Cantaert, Tineke, Frey, Lea, Klaas, Moritz, Rickert, Christian H., Girschick, Hermann, Meffre, Eric, Morbach, Henner
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9166864/
https://www.ncbi.nlm.nih.gov/pubmed/35246784
http://dx.doi.org/10.1007/s10875-022-01233-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9166864/
https://www.ncbi.nlm.nih.gov/pubmed/35246784
http://dx.doi.org/10.1007/s10875-022-01233-5

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