T-cell Defects in a Patient with NFKBIA Gene Mutation
Author:
Funder
Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s10875-024-01703-y.pdf
Reference5 articles.
1. Fusco F, Pescatore A, Conte MI, Mirabelli P, Paciolla M, Esposito E, et al. EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation. Int Rev Immunol. 2015;34(6):445–59.
2. Boisson B, Puel A, Picard C, Casanova JL. Human IκBα gain of function: a severe and syndromic immunodeficiency. J Clin Immunol. 2017;37(5):397–412.
3. Schmitz ML, Krappmann D. Controlling NF-kappaB activation in T cells by costimulatory receptors. Cell Death Differ. 2006;13(5):834–42.
4. Wen W, Wang L, Deng M, Li Y, Tang X, Mao H, et al. A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response. Genes Dis. 2022;9(1):176–86.
5. Chear CT, El Farran BAK. A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia. 2022;13(10).
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