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Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association.
Yee CS, Massaad MJ, Bainter W, Ohsumi TK, Föger N, Chan AC, Akarsu NA, Aytekin C, Ayvaz DÇ, Tezcan I, Sanal Ö, Geha RS, Chou J. Yee CS, et al. Among authors: geha rs. J Allergy Clin Immunol. 2016 Mar;137(3):879-88.e2. doi: 10.1016/j.jaci.2015.08.020. Epub 2015 Oct 21. J Allergy Clin Immunol. 2016. PMID: 26476480 Free PMC article.
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.
Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS. Jabara HH, et al. Among authors: geha rs. Nat Genet. 2016 Jan;48(1):74-8. doi: 10.1038/ng.3465. Epub 2015 Dec 7. Nat Genet. 2016. PMID: 26642240 Free PMC article.
Mutations in pyrin masquerading as a primary immunodeficiency.
Badran YR, Rajab M, Hanna-Wakim R, Bainter W, Cangemi B, Massaad MJ, Dbaibo G, Geha RS, Chou J. Badran YR, et al. Among authors: geha rs. Clin Immunol. 2016 Oct;171:65-66. doi: 10.1016/j.clim.2016.08.016. Epub 2016 Aug 15. Clin Immunol. 2016. PMID: 27538774
Leucine-rich repeat containing 8A (LRRC8A)-dependent volume-regulated anion channel activity is dispensable for T-cell development and function.
Platt CD, Chou J, Houlihan P, Badran YR, Kumar L, Bainter W, Poliani PL, Perez CJ, Dent SYR, Clapham DE, Benavides F, Geha RS. Platt CD, et al. Among authors: geha rs. J Allergy Clin Immunol. 2017 Dec;140(6):1651-1659.e1. doi: 10.1016/j.jaci.2016.12.974. Epub 2017 Feb 10. J Allergy Clin Immunol. 2017. PMID: 28192143 Free PMC article.
630 results