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Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency.
Platt CD, Zaman F, Bainter W, Stafstrom K, Almutairi A, Reigle M, Weeks S, Geha RS, Chou J; International Consortium for Immunodeficiencies. Platt CD, et al. Among authors: geha rs. J Allergy Clin Immunol. 2021 Feb;147(2):723-726. doi: 10.1016/j.jaci.2020.08.022. Epub 2020 Sep 2. J Allergy Clin Immunol. 2021. PMID: 32888943 Free PMC article.
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
Vavassori S, Chou J, Faletti LE, Haunerdinger V, Opitz L, Joset P, Fraser CJ, Prader S, Gao X, Schuch LA, Wagner M, Hoefele J, Maccari ME, Zhu Y, Elakis G, Gabbett MT, Forstner M, Omran H, Kaiser T, Kessler C, Olbrich H, Frosk P, Almutairi A, Platt CD, Elkins M, Weeks S, Rubin T, Planas R, Marchetti T, Koovely D, Klämbt V, Soliman NA, von Hardenberg S, Klemann C, Baumann U, Lenz D, Klein-Franke A, Schwemmle M, Huber M, Sturm E, Hartleif S, Häffner K, Gimpel C, Brotschi B, Laube G, Güngör T, Buckley MF, Kottke R, Staufner C, Hildebrandt F, Reu-Hofer S, Moll S, Weber A, Kaur H, Ehl S, Hiller S, Geha R, Roscioli T, Griese M, Pachlopnik Schmid J. Vavassori S, et al. J Allergy Clin Immunol. 2021 Aug;148(2):381-393. doi: 10.1016/j.jaci.2021.03.045. Epub 2021 Apr 17. J Allergy Clin Immunol. 2021. PMID: 33872655 Free PMC article. Clinical Trial.
Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency.
Abolhassani H, Chou J, Bainter W, Platt CD, Tavassoli M, Momen T, Tavakol M, Eslamian MH, Gharagozlou M, Movahedi M, Ghadami M, Hamidieh AA, Azizi G, Yazdani R, Afarideh M, Ghajar A, Havaei A, Chavoshzadeh Z, Mahdaviani SA, Cheraghi T, Behniafard N, Amin R, Aleyasin S, Faridhosseini R, Jabbari-Azad F, Nabavi M, Bemanian MH, Arshi S, Molatefi R, Sherkat R, Mansouri M, Mesdaghi M, Babaie D, Mohammadzadeh I, Ghaffari J, Shafiei A, Kalantari N, Ahanchian H, Khoshkhui M, Soheili H, Dabbaghzadeh A, Shirkani A, Nasiri Kalmarzi R, Mortazavi SH, Tafaroji J, Khalili A, Mohammadi J, Negahdari B, Joghataei MT, Al-Ramadi BK, Picard C, Parvaneh N, Rezaei N, Chatila TA, Massaad MJ, Keles S, Hammarström L, Geha RS, Aghamohammadi A. Abolhassani H, et al. Among authors: geha rs. J Allergy Clin Immunol. 2018 Apr;141(4):1450-1458. doi: 10.1016/j.jaci.2017.06.049. Epub 2017 Sep 12. J Allergy Clin Immunol. 2018. PMID: 28916186
Human primary immunodeficiency caused by expression of a kinase-dead p110δ mutant.
Cohen SB, Bainter W, Johnson JL, Lin TY, Wong JCY, Wallace JG, Jones J, Qureshi S, Mir F, Qamar F, Cantley LC, Geha RS, Chou J. Cohen SB, et al. Among authors: geha rs. J Allergy Clin Immunol. 2019 Feb;143(2):797-799.e2. doi: 10.1016/j.jaci.2018.10.005. Epub 2018 Oct 16. J Allergy Clin Immunol. 2019. PMID: 30336224 Free PMC article.
Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency.
Alosaimi MF, Hoenig M, Jaber F, Platt CD, Jones J, Wallace J, Debatin KM, Schulz A, Jacobsen E, Möller P, Shamseldin HE, Abdulwahab F, Ibrahim N, Alardati H, Almuhizi F, Abosoudah IF, Basha TA, Chou J, Alkuraya FS, Geha RS. Alosaimi MF, et al. Among authors: geha rs. J Allergy Clin Immunol. 2019 Aug;144(2):574-583.e5. doi: 10.1016/j.jaci.2019.03.002. Epub 2019 Mar 11. J Allergy Clin Immunol. 2019. PMID: 30872117 Free PMC article. Clinical Trial.
A novel variant in STAT2 presenting with hemophagocytic lymphohistiocytosis.
Alosaimi MF, Maciag MC, Platt CD, Geha RS, Chou J, Bartnikas LM. Alosaimi MF, et al. Among authors: geha rs. J Allergy Clin Immunol. 2019 Aug;144(2):611-613.e3. doi: 10.1016/j.jaci.2019.05.008. Epub 2019 May 15. J Allergy Clin Immunol. 2019. PMID: 31102697 Free PMC article.
627 results