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Page 1
The effects of RelB deficiency on lymphocyte development and function.
Sharfe N, Merico D, Karanxha A, Macdonald C, Dadi H, Ngan B, Herbrick JA, Roifman CM. Sharfe N, et al. Among authors: roifman cm. J Autoimmun. 2015 Dec;65:90-100. doi: 10.1016/j.jaut.2015.09.001. Epub 2015 Sep 15. J Autoimmun. 2015. PMID: 26385063
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick JA, Blencowe BJ, Roifman CM, Scherer SW. Merico D, et al. Among authors: roifman m, roifman cm. Nat Commun. 2015 Nov 2;6:8718. doi: 10.1038/ncomms9718. Nat Commun. 2015. PMID: 26522830 Free PMC article.
Hematopoietic stem cell transplantation for RelB deficiency.
Ovadia A, Dinur Schejter Y, Grunebaum E, Kim VH, Reid B, Schechter T, Pope E, Roifman CM. Ovadia A, et al. Among authors: roifman cm. J Allergy Clin Immunol. 2017 Oct;140(4):1199-1201.e3. doi: 10.1016/j.jaci.2017.05.007. Epub 2017 May 26. J Allergy Clin Immunol. 2017. PMID: 28552761 No abstract available.
Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.
Leiding JW, Okada S, Hagin D, Abinun M, Shcherbina A, Balashov DN, Kim VHD, Ovadia A, Guthery SL, Pulsipher M, Lilic D, Devlin LA, Christie S, Depner M, Fuchs S, van Royen-Kerkhof A, Lindemans C, Petrovic A, Sullivan KE, Bunin N, Kilic SS, Arpaci F, Calle-Martin O, Martinez-Martinez L, Aldave JC, Kobayashi M, Ohkawa T, Imai K, Iguchi A, Roifman CM, Gennery AR, Slatter M, Ochs HD, Morio T, Torgerson TR; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the Primary Immune Deficiency Treatment Consortium. Leiding JW, et al. Among authors: roifman cm. J Allergy Clin Immunol. 2018 Feb;141(2):704-717.e5. doi: 10.1016/j.jaci.2017.03.049. Epub 2017 Jun 7. J Allergy Clin Immunol. 2018. PMID: 28601685 Free PMC article.
Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11).
Dadi H, Jones TA, Merico D, Sharfe N, Ovadia A, Schejter Y, Reid B, Sun M, Vong L, Atkinson A, Lavi S, Pomerantz JL, Roifman CM. Dadi H, et al. Among authors: roifman cm. J Allergy Clin Immunol. 2018 May;141(5):1818-1830.e2. doi: 10.1016/j.jaci.2017.06.047. Epub 2017 Aug 19. J Allergy Clin Immunol. 2018. PMID: 28826773
Combined immunodeficiency caused by a novel homozygous NFKB1 mutation.
Mandola AB, Sharfe N, Nagdi Z, Dadi H, Vong L, Merico D, Ngan B, Reid B, Roifman CM. Mandola AB, et al. Among authors: roifman cm. J Allergy Clin Immunol. 2021 Feb;147(2):727-733.e2. doi: 10.1016/j.jaci.2020.08.040. Epub 2020 Sep 25. J Allergy Clin Immunol. 2021. PMID: 32980423
219 results