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Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα).
Bainter W, Lougaris V, Wallace JG, Badran Y, Hoyos-Bachiloglu R, Peters Z, Wilkie H, Das M, Janssen E, Beano A, Farhat KB, Kam C, Bercich L, Incardona P, Villanacci V, Bondioni MP, Meini A, Baronio M, Abarzua P, Parolini S, Tabellini G, Maio S, Schmidt B, Goldsmith JD, Murphy G, Hollander G, Plebani A, Chou J, Geha RS. Bainter W, et al. Among authors: peters z. Sci Immunol. 2021 Sep 17;6(63):eabf6723. doi: 10.1126/sciimmunol.abf6723. Epub 2021 Sep 17. Sci Immunol. 2021. PMID: 34533979 Free PMC article.
Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complex.
Bainter W, Platt CD, Park SY, Stafstrom K, Wallace JG, Peters ZT, Massaad MJ, Becuwe M, Salinas SA, Jones J, Beaussant-Cohen S, Jaber F, Yang JS, Walther TC, Orange JS, Rao C, Rakoff-Nahoum S, Tsokos M, Naseem SUR, Al-Tamemi S, Chou J, Hsu VW, Geha RS. Bainter W, et al. J Clin Invest. 2021 Feb 1;131(3):e140494. doi: 10.1172/JCI140494. J Clin Invest. 2021. PMID: 33529166 Free PMC article.
Immune dysregulation caused by homozygous mutations in CBLB.
Janssen E, Peters Z, Alosaimi MF, Smith E, Milin E, Stafstrom K, Wallace JG, Platt CD, Chou J, El Ansari YS, Al Farsi T, Ameziane N, Al-Ali R, Calvo M, Rocha ME, Bauer P, Al-Sannaa NA, Al Sukaiti NF, Alangari AA, Bertoli-Avella AM, Geha RS. Janssen E, et al. Among authors: peters z. J Clin Invest. 2022 Oct 17;132(20):e154487. doi: 10.1172/JCI154487. J Clin Invest. 2022. PMID: 36006710 Free PMC article.
Mechanisms underlying genetic susceptibility to multisystem inflammatory syndrome in children (MIS-C).
Chou J, Platt CD, Habiballah S, Nguyen AA, Elkins M, Weeks S, Peters Z, Day-Lewis M, Novak T, Armant M, Williams L, Rockowitz S, Sliz P, Williams DA, Randolph AG, Geha RS; Taking on COVID-19 Together Study Investigators. Chou J, et al. Among authors: peters z. J Allergy Clin Immunol. 2021 Sep;148(3):732-738.e1. doi: 10.1016/j.jaci.2021.06.024. Epub 2021 Jul 2. J Allergy Clin Immunol. 2021. PMID: 34224783 Free PMC article.
30 results