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A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.
Schimke LF, Rieber N, Rylaarsdam S, Cabral-Marques O, Hubbard N, Puel A, Kallmann L, Sombke SA, Notheis G, Schwarz HP, Kammer B, Hökfelt T, Repp R, Picard C, Casanova JL, Belohradsky BH, Albert MH, Ochs HD, Renner ED, Torgerson TR. Schimke LF, et al. J Clin Immunol. 2013 Aug;33(6):1088-99. doi: 10.1007/s10875-013-9906-1. Epub 2013 May 25. J Clin Immunol. 2013. PMID: 23708964
ADAR1 mutation causes ZBP1-dependent immunopathology.
Hubbard NW, Ames JM, Maurano M, Chu LH, Somfleth KY, Gokhale NS, Werner M, Snyder JM, Lichauco K, Savan R, Stetson DB, Oberst A. Hubbard NW, et al. Nature. 2022 Jul;607(7920):769-775. doi: 10.1038/s41586-022-04896-7. Epub 2022 Jul 20. Nature. 2022. PMID: 35859177 Free PMC article.
Rapid immune reconstitution of SCID-X1 canines after G-CSF/AMD3100 mobilization and in vivo gene therapy.
Humbert O, Chan F, Rajawat YS, Torgerson TR, Burtner CR, Hubbard NW, Humphrys D, Norgaard ZK, O'Donnell P, Adair JE, Trobridge GD, Scharenberg AM, Felsburg PJ, Rawlings DJ, Kiem HP. Humbert O, et al. Among authors: hubbard nw. Blood Adv. 2018 May 8;2(9):987-999. doi: 10.1182/bloodadvances.2018016451. Blood Adv. 2018. PMID: 29720491 Free PMC article.
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