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Page 1
Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects.
Lev A, Lee YN, Sun G, Hallumi E, Simon AJ, Zrihen KS, Levy S, Beit Halevi T, Papazian M, Shwartz N, Somekh I, Levy-Mendelovich S, Wolach B, Gavrieli R, Vernitsky H, Barel O, Javasky E, Stauber T, Ma CA, Zhang Y, Amariglio N, Rechavi G, Hendel A, Yablonski D, Milner JD, Somech R. Lev A, et al. Among authors: milner jd. J Exp Med. 2021 Mar 1;218(3):e20201062. doi: 10.1084/jem.20201062. J Exp Med. 2021. PMID: 33231617 Free PMC article.
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.
Kotlarz D, Ziętara N, Uzel G, Weidemann T, Braun CJ, Diestelhorst J, Krawitz PM, Robinson PN, Hecht J, Puchałka J, Gertz EM, Schäffer AA, Lawrence MG, Kardava L, Pfeifer D, Baumann U, Pfister ED, Hanson EP, Schambach A, Jacobs R, Kreipe H, Moir S, Milner JD, Schwille P, Mundlos S, Klein C. Kotlarz D, et al. Among authors: milner jd. J Exp Med. 2013 Mar 11;210(3):433-43. doi: 10.1084/jem.20111229. Epub 2013 Feb 25. J Exp Med. 2013. PMID: 23440042 Free PMC article.
ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.
Lyons JJ, Liu Y, Ma CA, Yu X, O'Connell MP, Lawrence MG, Zhang Y, Karpe K, Zhao M, Siegel AM, Stone KD, Nelson C, Jones N, DiMaggio T, Darnell DN, Mendoza-Caamal E, Orozco L, Hughes JD, McElwee J, Hohman RJ, Frischmeyer-Guerrerio PA, Rothenberg ME, Freeman AF, Holland SM, Milner JD. Lyons JJ, et al. Among authors: milner jd. J Exp Med. 2017 Mar 6;214(3):669-680. doi: 10.1084/jem.20161435. Epub 2017 Jan 26. J Exp Med. 2017. PMID: 28126831 Free PMC article.
Correction: ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.
Lyons JJ, Liu Y, Ma CA, Yu X, O'Connell MP, Lawrence MG, Zhang Y, Karpe K, Zhao M, Siegel AM, Stone KD, Nelson C, Jones N, DiMaggio T, Darnell DN, Mendoza-Caamal E, Orozco L, Hughes JD, McElwee J, Hohman RJ, Frischmeyer-Guerrerio PA, Rothenberg ME, Freeman AF, Holland SM, Milner JD. Lyons JJ, et al. Among authors: milner jd. J Exp Med. 2017 Apr 3;214(4):1201. doi: 10.1084/jem.2016143503082017c. Epub 2017 Mar 13. J Exp Med. 2017. PMID: 28289052 Free PMC article. No abstract available.
Germline hypomorphic CARD11 mutations in severe atopic disease.
Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg N, Meffre E, Gelfand EW, Snow AL, Milner JD. Ma CA, et al. Among authors: milner jd. Nat Genet. 2017 Aug;49(8):1192-1201. doi: 10.1038/ng.3898. Epub 2017 Jun 19. Nat Genet. 2017. PMID: 28628108 Free PMC article.
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
Schwerd T, Twigg SRF, Aschenbrenner D, Manrique S, Miller KA, Taylor IB, Capitani M, McGowan SJ, Sweeney E, Weber A, Chen L, Bowness P, Riordan A, Cant A, Freeman AF, Milner JD, Holland SM, Frede N, Müller M, Schmidt-Arras D, Grimbacher B, Wall SA, Jones EY, Wilkie AOM, Uhlig HH. Schwerd T, et al. Among authors: milner jd. J Exp Med. 2017 Sep 4;214(9):2547-2562. doi: 10.1084/jem.20161810. Epub 2017 Jul 26. J Exp Med. 2017. PMID: 28747427 Free PMC article.
Primary atopic disorders.
Lyons JJ, Milner JD. Lyons JJ, et al. Among authors: milner jd. J Exp Med. 2018 Apr 2;215(4):1009-1022. doi: 10.1084/jem.20172306. Epub 2018 Mar 16. J Exp Med. 2018. PMID: 29549114 Free PMC article. Review.
216 results