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BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.
Nat Immunol. 2017 Jul;18(7):813-823. doi: 10.1038/ni.3753. Epub 2017 May 22.
Nat Immunol. 2017.
PMID: 28530713
Free PMC article.
Blau syndrome NOD2 mutations result in loss of NOD2 cross-regulatory function.
Mao L, Dhar A, Meng G, Fuss I, Montgomery-Recht K, Yang Z, Xu Q, Kitani A, Strober W.
Mao L, et al. Among authors: montgomery recht k.
Front Immunol. 2022 Sep 15;13:988862. doi: 10.3389/fimmu.2022.988862. eCollection 2022.
Front Immunol. 2022.
PMID: 36189261
Free PMC article.
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CVID enteropathy is characterized by exceeding low mucosal IgA levels and interferon-driven inflammation possibly related to the presence of a pathobiont.
Shulzhenko N, Dong X, Vyshenska D, Greer RL, Gurung M, Vasquez-Perez S, Peremyslova E, Sosnovtsev S, Quezado M, Yao M, Montgomery-Recht K, Strober W, Fuss IJ, Morgun A.
Shulzhenko N, et al. Among authors: montgomery recht k.
Clin Immunol. 2018 Dec;197:139-153. doi: 10.1016/j.clim.2018.09.008. Epub 2018 Sep 19.
Clin Immunol. 2018.
PMID: 30240602
Free PMC article.
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Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn's disease.
Mao L, Kitani A, Similuk M, Oler AJ, Albenberg L, Kelsen J, Aktay A, Quezado M, Yao M, Montgomery-Recht K, Fuss IJ, Strober W.
Mao L, et al. Among authors: montgomery recht k.
J Clin Invest. 2018 May 1;128(5):1793-1806. doi: 10.1172/JCI98642. Epub 2018 Mar 26.
J Clin Invest. 2018.
PMID: 29408806
Free PMC article.
Clinical Trial.
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Bruton tyrosine kinase deficiency augments NLRP3 inflammasome activation and causes IL-1β-mediated colitis.
Mao L, Kitani A, Hiejima E, Montgomery-Recht K, Zhou W, Fuss I, Wiestner A, Strober W.
Mao L, et al. Among authors: montgomery recht k.
J Clin Invest. 2020 Apr 1;130(4):1793-1807. doi: 10.1172/JCI128322.
J Clin Invest. 2020.
PMID: 31895698
Free PMC article.
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Robust Antibody and T Cell Responses to SARS-CoV-2 in Patients with Antibody Deficiency.
Kinoshita H, Durkee-Shock J, Jensen-Wachspress M, Kankate VV, Lang H, Lazarski CA, Keswani A, Webber KC, Montgomery-Recht K, Walkiewicz M, Notarangelo LD, Burbelo PD, Fuss I, Cohen JI, Bollard CM, Keller MD.
Kinoshita H, et al. Among authors: montgomery recht k.
J Clin Immunol. 2021 Aug;41(6):1146-1153. doi: 10.1007/s10875-021-01046-y. Epub 2021 May 13.
J Clin Immunol. 2021.
PMID: 33983545
Free PMC article.
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