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Practical challenges for functional validation of STAT1 gain of function genetic variants.
Albuquerque AS, Maimaris J, McKenna AJ, Lambourne J, Moreira F, Workman S, Megy K, Simeoni I, Lango Allen H; NIHR BioResource-Rare Disease Consortium; Morris EC, Burns SO. Albuquerque AS, et al. Clin Exp Immunol. 2023 Apr 25;212(2):166-169. doi: 10.1093/cei/uxad008. Clin Exp Immunol. 2023. PMID: 36722341 Free PMC article. No abstract available.
Biallelic deleterious germline SH2B3 variants cause a novel syndrome of myeloproliferation and multi-organ autoimmunity.
Blombery P, Pazhakh V, Albuquerque AS, Maimaris J, Tu L, Briones Miranda B, Evans F, Thompson ER, Carpenter B, Proctor I, Curtin JA, Lambert J, Burns SO, Lieschke GJ. Blombery P, et al. Among authors: albuquerque as. EJHaem. 2023 Apr 30;4(2):463-469. doi: 10.1002/jha2.698. eCollection 2023 May. EJHaem. 2023. PMID: 37206266 Free PMC article.
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: albuquerque as. 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.
Therapeutic gene editing of T cells to correct CTLA-4 insufficiency.
Fox TA, Houghton BC, Petersone L, Waters E, Edner NM, McKenna A, Preham O, Hinze C, Williams C, de Albuquerque AS, Kennedy A, Pesenacker AM, Genovese P, Walker LSK, Burns SO, Sansom DM, Booth C, Morris EC. Fox TA, et al. Among authors: de albuquerque as. Sci Transl Med. 2022 Oct 26;14(668):eabn5811. doi: 10.1126/scitranslmed.abn5811. Epub 2022 Oct 26. Sci Transl Med. 2022. PMID: 36288278
Partial human Janus kinase 1 deficiency predominantly impairs responses to interferon gamma and intracellular control of mycobacteria.
Daza-Cajigal V, Albuquerque AS, Young DF, Ciancanelli MJ, Moulding D, Angulo I, Jeanne-Julien V, Rosain J, Minskaia E, Casanova JL, Boisson-Dupuis S, Bustamante J, Randall RE, McHugh TD, Thrasher AJ, Burns SO. Daza-Cajigal V, et al. Among authors: albuquerque as. Front Immunol. 2022 Sep 9;13:888427. doi: 10.3389/fimmu.2022.888427. eCollection 2022. Front Immunol. 2022. PMID: 36159783 Free PMC article.
Intrapericardial Paraganglioma.
Gomes de Farias LP, Teles GBDS, Baptista LPS, de Albuquerque AS. Gomes de Farias LP, et al. Among authors: de albuquerque as. Radiol Cardiothorac Imaging. 2022 Jul 28;4(4):e220100. doi: 10.1148/ryct.220100. eCollection 2022 Aug. Radiol Cardiothorac Imaging. 2022. PMID: 36059382 Free PMC article. No abstract available.
31 results