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Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.
Cooray S, Price-Kuehne F, Hong Y, Omoyinmi E, Burleigh A, Gilmour KC, Ahmad B, Choi S, Bahar MW, Torpiano P, Gagunashvili A, Jensen B, Bellos E, Sancho-Shimizu V, Herberg JA, Mankad K, Kumar A, Kaliakatsos M, Worth AJJ, Eleftheriou D, Whittaker E, Brogan PA. Cooray S, et al. Among authors: gilmour kc. Front Immunol. 2023 Sep 6;14:1231749. doi: 10.3389/fimmu.2023.1231749. eCollection 2023. Front Immunol. 2023. PMID: 37744344 Free PMC article.
Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2.
Hong Y, Nanthapisal S, Omoyinmi E, Olbrich P, Neth O, Speckmann C, Lucena JM, Gilmour K, Worth A; Genomics England Research Consortium; Klein N, Eleftheriou D, Brogan P. Hong Y, et al. Front Immunol. 2019 Nov 11;10:2589. doi: 10.3389/fimmu.2019.02589. eCollection 2019. Front Immunol. 2019. PMID: 31781101 Free PMC article.
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi E, Standing A, Keylock A, Price-Kuehne F, Melo Gomes S, Rowczenio D, Nanthapisal S, Cullup T, Nyanhete R, Ashton E, Murphy C, Clarke M, Ahlfors H, Jenkins L, Gilmour K, Eleftheriou D, Lachmann HJ, Hawkins PN, Klein N, Brogan PA. Omoyinmi E, et al. PLoS One. 2017 Jul 27;12(7):e0181874. doi: 10.1371/journal.pone.0181874. eCollection 2017. PLoS One. 2017. PMID: 28750028 Free PMC article.
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D, Omoyinmi E, Hong Y, Mulhern C, Papadopoulou C, Casimir M, Hacohen Y, Nyanhete R, Ahlfors H, Cullup T, Lim M, Gilmour K, Mankad K, Wassmer E, Berg S, Hemingway C, Brogan P, Eleftheriou D. McCreary D, et al. JAMA Netw Open. 2019 Oct 2;2(10):e1914274. doi: 10.1001/jamanetworkopen.2019.14274. JAMA Netw Open. 2019. PMID: 31664448 Free PMC article.
Janus kinase inhibition for autoinflammation in patients with DNASE2 deficiency.
Hong Y, Capitani M, Murphy C, Pandey S, Cavounidis A, Takeshita H, Nanthapisal S, Yasuda T, Bader-Meunier B, McCreary D, Omoyinmi E, Rao A, Booth C, Gilmour K, Sebire N, Shah N, Klein N, Bullock AN, Eleftheriou D, Uhlig HH, Brogan P. Hong Y, et al. J Allergy Clin Immunol. 2020 Feb;145(2):701-705.e8. doi: 10.1016/j.jaci.2019.11.020. Epub 2019 Nov 24. J Allergy Clin Immunol. 2020. PMID: 31775019 Free article. No abstract available.
Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma.
Minskaia E, Maimaris J, Jenkins P, Albuquerque AS, Hong Y, Eleftheriou D, Gilmour KC, Grace R, Moreira F, Grimbacher B; NIHR Bioresource-Rare Diseases Consortium; Morris EC, Burns SO. Minskaia E, et al. Among authors: gilmour kc. J Clin Immunol. 2023 Oct;43(7):1611-1622. doi: 10.1007/s10875-023-01530-7. Epub 2023 Jun 14. J Clin Immunol. 2023. PMID: 37316763 Free PMC article.
143 results