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PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants.
Baysac K, Sun G, Nakano H, Schmitz EG, Cruz AC, Fisher C, Bailey AC; PLCG2-Immune Dysregulation Working Group; Mace E, Milner JD, Ombrello MJ. Baysac K, et al. Among authors: sun g. J Allergy Clin Immunol. 2024 Jan;153(1):230-242. doi: 10.1016/j.jaci.2023.08.036. Epub 2023 Sep 26. J Allergy Clin Immunol. 2024. PMID: 37769878
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: sun g. 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.
Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities.
Lyons JJ, Sun G, Stone KD, Nelson C, Wisch L, O'Brien M, Jones N, Lindsley A, Komarow HD, Bai Y, Scott LM, Cantave D, Maric I, Abonia JP, Rothenberg ME, Schwartz LB, Milner JD, Wilson TM. Lyons JJ, et al. Among authors: sun g. J Allergy Clin Immunol. 2014 May;133(5):1471-4. doi: 10.1016/j.jaci.2013.11.039. Epub 2014 Jan 25. J Allergy Clin Immunol. 2014. PMID: 24472624 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. Among authors: sun g. 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.
Recurrent lymphadenitis in a female XIAP/BIRC4 mutation carrier with normal lyonization.
Durkee-Shock JR, Kuehn HS, Stoddard J, Niemela JE, Sun G, Keller MD, Rosenzweig S, Milner JD. Durkee-Shock JR, et al. Among authors: sun g. J Allergy Clin Immunol Pract. 2021 Feb;9(2):1002-1005.e2. doi: 10.1016/j.jaip.2020.10.062. Epub 2020 Nov 16. J Allergy Clin Immunol Pract. 2021. PMID: 33212241 No abstract available.
9,754 results