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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.
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.
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: wallace jg. 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.
A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency.
Lougaris V, Chou J, Beano A, Wallace JG, Baronio M, Gazzurelli L, Lorenzini T, Moratto D, Tabellini G, Parolini S, Seleman M, Stafstrom K, Xu H, Harris C, Geha RS, Plebani A. Lougaris V, et al. Among authors: wallace jg. J Allergy Clin Immunol. 2019 Apr;143(4):1649-1653.e3. doi: 10.1016/j.jaci.2019.01.001. Epub 2019 Jan 14. J Allergy Clin Immunol. 2019. PMID: 30654050 No abstract available.
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.
Calzoni E, Platt CD, Keles S, Kuehn HS, Beaussant-Cohen S, Zhang Y, Pazmandi J, Lanzi G, Pala F, Tahiat A, Artac H, Heredia RJ, Dmytrus J, Reisli I, Uygun V, Uygun D, Bingol A, Basaran E, Djenouhat K, Benhalla N, Bendahmane C, Emiroglu M, Kirchhausen T, Pasham M, Jones J, Wallace JG, Zheng L, Boisson B, Porta F, Rosenzweig SD, Su H, Giliani S, Lenardo M, Geha RS, Boztug K, Chou J, Notarangelo LD. Calzoni E, et al. Among authors: wallace jg. J Allergy Clin Immunol. 2019 Jun;143(6):2317-2321.e12. doi: 10.1016/j.jaci.2019.02.014. Epub 2019 Feb 26. J Allergy Clin Immunol. 2019. PMID: 30822429 Free PMC article.
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.
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. Among authors: wallace jg. J Clin Invest. 2021 Feb 1;131(3):e140494. doi: 10.1172/JCI140494. J Clin Invest. 2021. PMID: 33529166 Free PMC article.
88 results