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Page 1
Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation.
Chou J, Alazami AM, Jaber F, Hoyos-Bachiloglu R, Jones J, Weeks S, Alosaimi MF, Bainter W, Cangemi B, Badran YR, Mohammed R, Alroqi F, Almutairi A, Al-Onazi N, AlAjaji S, Al-Saud B, Arnaout R, Elkins M, Devana S, Imperial J, Li B, Drexhage L, Abdel Rahman AM, Jacob M, Haddad H, Hanna-Wakim R, Dbaibo G, Massaad MJ, Dasouki M, Mikhael R, Baz Z, Geha RS, Al-Mousa H. Chou J, et al. J Allergy Clin Immunol. 2020 Jul;146(1):192-202. doi: 10.1016/j.jaci.2019.12.004. Epub 2019 Dec 17. J Allergy Clin Immunol. 2020. PMID: 31862378 Clinical Trial.
A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations.
Hoyos-Bachiloglu R, Chou J, Sodroski CN, Beano A, Bainter W, Angelova M, Al Idrissi E, Habazi MK, Alghamdi HA, Almanjomi F, Al Shehri M, Elsidig N, Alaa Eldin M, Knipe DM, AlZahrani M, Geha RS. Hoyos-Bachiloglu R, et al. J Clin Invest. 2017 Dec 1;127(12):4415-4420. doi: 10.1172/JCI93486. Epub 2017 Nov 6. J Clin Invest. 2017. PMID: 29106381 Free PMC article. Clinical Trial.
Autoimmunity and immunodeficiency.
Hoyos-Bachiloglu R, Chou J. Hoyos-Bachiloglu R, et al. Curr Opin Rheumatol. 2020 Mar;32(2):168-174. doi: 10.1097/BOR.0000000000000688. Curr Opin Rheumatol. 2020. PMID: 31977526 Review.
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: hoyos bachiloglu r. 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.
38 results