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Page 1
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.
IRF4 International Consortium; Fornes O, Jia A, Kuehn HS, Min Q, Pannicke U, Schleussner N, Thouenon R, Yu Z, de Los Angeles Astbury M, Biggs CM, Galicchio M, Garcia-Campos JA, Gismondi S, Gonzalez Villarreal G, Hildebrand KJ, Hönig M, Hou J, Moshous D, Pittaluga S, Qian X, Rozmus J, Schulz AS, Staines-Boone AT, Sun B, Sun J, Uwe S, Venegas-Montoya E, Wang W, Wang X, Ying W, Zhai X, Zhou Q, Akalin A, André I, Barth TFE, Baumann B, Brüstle A, Burgio G, Bustamante JC, Casanova JL, Casarotto MG, Cavazzana M, Chentout L, Cockburn IA, Costanza M, Cui C, Daumke O, Del Bel KL, Eibel H, Feng X, Franke V, Gebhardt JCM, Götz A, Grunwald S, Hoareau B, Hughes TR, Jacobsen EM, Janz M, Jolma A, Lagresle-Peyrou C, Lai N, Li Y, Lin S, Lu HY, Lugo-Reyes SO, Meng X, Möller P, Moreno-Corona N, Niemela JE, Novakovsky G, Perez-Caraballo JJ, Picard C, Poggi L, Puig-Lombardi ME, Randall KL, Reisser A, Schmitt Y, Seneviratne S, Sharma M, Stoddard J, Sundararaj S, Sutton H, Tran LQ, Wang Y, Wasserman WW, Wen Z, Winkler W, Xiong E, Yang AWH, Yu M, Zhang L, Zhang H, Zhao Q, Zhen X, Enders A, Kracker S, Martinez-Barricarte R, Mathas S, Rosenzweig SD, Schwarz K, Turvey SE, Wang JY. IRF4 International Consortium, et al. Among authors: seneviratne s. Sci Immunol. 2023 Jan 20;8(79):eade7953. doi: 10.1126/sciimmunol.ade7953. Epub 2023 Jan 20. Sci Immunol. 2023. PMID: 36662884 Free PMC article.
Structural determinants of the IRF4/DNA homodimeric complex.
Sundararaj S, Seneviratne S, Williams SJ, Enders A, Casarotto MG. Sundararaj S, et al. Among authors: seneviratne s. Nucleic Acids Res. 2021 Feb 26;49(4):2255-2265. doi: 10.1093/nar/gkaa1287. Nucleic Acids Res. 2021. PMID: 33533913 Free PMC article.
TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies.
Boast B, Goel S, González-Granado LI, Niemela J, Stoddard J, Edwards ESJ, Seneviratne S, Spensberger D, Quesada-Espinosa JF, Allende LM, McDonnell J, Haseley A, Lesmana H, Walkiewicz MA, Muhammad E, Bosco JJ, Fleisher TA, Cohen S, Holland SM, van Zelm MC, Enders A, Kuehn HS, Rosenzweig SD. Boast B, et al. Among authors: seneviratne s. J Allergy Clin Immunol. 2023 Sep;152(3):736-747. doi: 10.1016/j.jaci.2023.05.017. Epub 2023 Jun 3. J Allergy Clin Immunol. 2023. PMID: 37277074 Free PMC article.
DOCK2 Deficiency Causes Defects in Antiviral T-Cell Responses and Impaired Control of Herpes Simplex Virus Infection.
Randall KL, Flesch IEA, Mei Y, Miosge LA, Aye R, Yu Z, Domaschenz H, Hollett NA, Russell TA, Stefanovic T, Wong YC, Seneviratne S, Ballard F, Hernandez Gallardo R, Croft SN, Goodnow CC, Bertram EM, Enders A, Tscharke DC. Randall KL, et al. Among authors: seneviratne s. J Infect Dis. 2024 Sep 23;230(3):e712-e721. doi: 10.1093/infdis/jiae077. J Infect Dis. 2024. PMID: 38366567
DECTIN-1: A modifier protein in CTLA-4 haploinsufficiency.
Turnbull C, Bones J, Stanley M, Medhavy A, Wang H, Lorenzo AMD, Cappello J, Shanmuganandam S, Pandey A, Seneviratne S, Brown GJ, Meng X, Fulcher D, Burgio G, Man SM, de Lucas Collantes C, Gasior M, López Granados E, Martin P, Jiang SH, Cook MC, Ellyard JI, Athanasopoulos V, Corry B, Canete PF, Vinuesa CG. Turnbull C, et al. Among authors: seneviratne s. Sci Adv. 2023 Dec 8;9(49):eadi9566. doi: 10.1126/sciadv.adi9566. Epub 2023 Dec 6. Sci Adv. 2023. PMID: 38055819 Free PMC article.
Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022.
Tseretopoulou X, Ali SR, Bryce J, Amin N, Atapattu N, Bachega TASS, Baronio F, Ortolano R, Birkebaek NH, Bonfig W, Cools M, Davies JH, Thomas T, de Vries L, Elsedfy H, Amr NH, Flueck CE, Globa E, Guran T, Yavas-Abali Z, Guven A, Hannema SE, Iotova V, Konrad D, Lenherr-Taube N, Krone NP, Leka-Emiri S, Vlachopapadopoulou E, Lichiardopol C, Marginean O, Markosyan R, Neumann U, Niedziela M, Banaszak-Ziemska M, Phan-Hug F, Poyrazoglu S, Probst-Scheidegger U, Randell T, Russo G, Salerno M, Seneviratne S, Shnorhavorian M, Thankamony A, Tadokoro-Curraro R, van den Akker E, van Eck J, Vieites A, Wasniewska M, Ahmed SF. Tseretopoulou X, et al. Among authors: seneviratne s. J Endocr Soc. 2024 Aug 20;8(10):bvae145. doi: 10.1210/jendso/bvae145. eCollection 2024 Aug 27. J Endocr Soc. 2024. PMID: 39258010 Free PMC article.
Gynecomastia and Its Management In Boys With Partial Androgen Insensitivity Syndrome.
Patjamontri S, Lucas-Herald AK, Bryce J, van den Akker E, Cools M, Globa E, Guerra-Junior G, Hiort O, Hofman P, Holterhus PM, Hughes IA, Juul A, Nordenstrom A, Russo G, Stancampiano MR, Seneviratne SN, Tadokoro-Cuccaro R, Thankamony A, Weintrob N, Zelinska N, Ahmed SF. Patjamontri S, et al. Among authors: seneviratne sn. J Clin Endocrinol Metab. 2024 Aug 30:dgae562. doi: 10.1210/clinem/dgae562. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 39213311
Dryland self-expansion enabled by land-atmosphere feedbacks.
Koppa A, Keune J, Schumacher DL, Michaelides K, Singer M, Seneviratne SI, Miralles DG. Koppa A, et al. Among authors: seneviratne si. Science. 2024 Aug 30;385(6712):967-972. doi: 10.1126/science.adn6833. Epub 2024 Aug 29. Science. 2024. PMID: 39208096
480 results