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Page 1
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.
Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, Subramanian N, Bunney TD, Baxendale RW, Martins MS, Romberg N, Komarow H, Aksentijevich I, Kim HS, Ho J, Cruse G, Jung MY, Gilfillan AM, Metcalfe DD, Nelson C, O'Brien M, Wisch L, Stone K, Douek DC, Gandhi C, Wanderer AA, Lee H, Nelson SF, Shianna KV, Cirulli ET, Goldstein DB, Long EO, Moir S, Meffre E, Holland SM, Kastner DL, Katan M, Hoffman HM, Milner JD. Ombrello MJ, et al. Among authors: stone k. N Engl J Med. 2012 Jan 26;366(4):330-8. doi: 10.1056/NEJMoa1102140. Epub 2012 Jan 11. N Engl J Med. 2012. PMID: 22236196 Free PMC article.
Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation.
Siegel AM, Stone KD, Cruse G, Lawrence MG, Olivera A, Jung MY, Barber JS, Freeman AF, Holland SM, O'Brien M, Jones N, Nelson CG, Wisch LB, Kong HH, Desai A, Farber O, Gilfillan AM, Rivera J, Milner JD. Siegel AM, et al. J Allergy Clin Immunol. 2013 Dec;132(6):1388-96. doi: 10.1016/j.jaci.2013.08.045. Epub 2013 Nov 1. J Allergy Clin Immunol. 2013. PMID: 24184145 Free PMC article.
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, Jing H, Kim ES, Biancalana M, Wolfe LA, DiMaggio T, Matthews HF, Kranick SM, Stone KD, Holland SM, Reich DS, Hughes JD, Mehmet H, McElwee J, Freeman AF, Freeze HH, Su HC, Milner JD. Zhang Y, et al. J Allergy Clin Immunol. 2014 May;133(5):1400-9, 1409.e1-5. doi: 10.1016/j.jaci.2014.02.013. Epub 2014 Feb 28. J Allergy Clin Immunol. 2014. PMID: 24589341 Free PMC article. Clinical Trial.
IgE, mast cells, basophils, and eosinophils.
Stone KD, Prussin C, Metcalfe DD. Stone KD, et al. J Allergy Clin Immunol. 2010 Feb;125(2 Suppl 2):S73-80. doi: 10.1016/j.jaci.2009.11.017. J Allergy Clin Immunol. 2010. PMID: 20176269 Free PMC article. Review.
Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry.
Carlson RJ, Bond MR, Hutchins S, Brown Y, Wolfe LA, Lam C, Nelson C, DiMaggio T, Jones N, Rosenzweig SD, Stone KD, Freeman AF, Holland SM, Hanover JA, Milner JD, Lyons JJ. Carlson RJ, et al. J Allergy Clin Immunol. 2017 Jul;140(1):291-294.e4. doi: 10.1016/j.jaci.2016.12.951. Epub 2017 Jan 4. J Allergy Clin Immunol. 2017. PMID: 28063873 Free PMC article. No abstract available.
Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis.
Peled A, Sarig O, Sun G, Samuelov L, Ma CA, Zhang Y, Dimaggio T, Nelson CG, Stone KD, Freeman AF, Malki L, Vidal LS, Chamarthy LM, Briskin V, Mohamad J, Pavlovsky M, Walter JE, Milner JD, Sprecher E. Peled A, et al. J Allergy Clin Immunol. 2019 Jan;143(1):173-181.e10. doi: 10.1016/j.jaci.2018.09.002. Epub 2018 Sep 21. J Allergy Clin Immunol. 2019. PMID: 30248356 Clinical Trial.
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: stone kd. 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.
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: stone kd. 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.
1,276 results