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2015 1
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28 results

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Page 1
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.
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. 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.
Dysregulated actin dynamics in activated PI3Kδ syndrome.
Wallace JG, Zambrano-Rodas P, Córdova-Calderón W, Estrada-Turriate S, Mendoza-Quispe D, Limache Ontiveros Y, Geha RS, Chou J, Platt CD. Wallace JG, et al. Clin Immunol. 2020 Jan;210:108311. doi: 10.1016/j.clim.2019.108311. Epub 2019 Nov 21. Clin Immunol. 2020. PMID: 31760094 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. 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.
ITK deficiency presenting as autoimmune lymphoproliferative syndrome.
Wallace JG, Alosaimi MF, Khayat CD, Jaber F, Almutairi A, Beaussant-Cohen S, Pinkus G, Fleming M, Mehawej C, Chou J, Geha RS. Wallace JG, et al. J Allergy Clin Immunol. 2021 Feb;147(2):743-745.e1. doi: 10.1016/j.jaci.2020.06.019. Epub 2020 Jul 4. J Allergy Clin Immunol. 2021. PMID: 32628964 Free PMC article.
T-cell mitochondrial dysfunction and lymphopenia in DOCK2-deficient patients.
Alosaimi MF, Shendi H, Beano A, Stafstrom K, El Hawary R, Meshaal S, Galal N, Pai SY, El-Marsafy A, Geha RS, Chou J. Alosaimi MF, et al. J Allergy Clin Immunol. 2019 Jul;144(1):306-309.e2. doi: 10.1016/j.jaci.2019.02.020. Epub 2019 Mar 1. J Allergy Clin Immunol. 2019. PMID: 30826364 Free PMC article.
Combined immunodeficiency in a patient with c-Rel deficiency.
Beaussant-Cohen S, Jaber F, Massaad MJ, Weeks S, Jones J, Alosaimi MF, Wallace J, Al-Herz W, Geha RS, Chou J. Beaussant-Cohen S, et al. J Allergy Clin Immunol. 2019 Aug;144(2):606-608.e4. doi: 10.1016/j.jaci.2019.05.003. Epub 2019 May 16. J Allergy Clin Immunol. 2019. PMID: 31103457 Free PMC article.
28 results