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Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.
Sharma M, Leung D, Momenilandi M, Jones LCW, Pacillo L, James AE, Murrell JR, Delafontaine S, Maimaris J, Vaseghi-Shanjani M, Del Bel KL, Lu HY, Chua GT, Di Cesare S, Fornes O, Liu Z, Di Matteo G, Fu MP, Amodio D, Tam IYS, Chan GSW, Sharma AA, Dalmann J, van der Lee R, Blanchard-Rohner G, Lin S, Philippot Q, Richmond PA, Lee JJ, Matthews A, Seear M, Turvey AK, Philips RL, Brown-Whitehorn TF, Gray CJ, Izumi K, Treat JR, Wood KH, Lack J, Khleborodova A, Niemela JE, Yang X, Liang R, Kui L, Wong CSM, Poon GWK, Hoischen A, van der Made CI, Yang J, Chan KW, Rosa Duque JSD, Lee PPW, Ho MHK, Chung BHY, Le HTM, Yang W, Rohani P, Fouladvand A, Rokni-Zadeh H, Changi-Ashtiani M, Miryounesi M, Puel A, Shahrooei M, Finocchi A, Rossi P, Rivalta B, Cifaldi C, Novelli A, Passarelli C, Arasi S, Bullens D, Sauer K, Claeys T, Biggs CM, Morris EC, Rosenzweig SD, O'Shea JJ, Wasserman WW, Bedford HM, van Karnebeek CDM, Palma P, Burns SO, Meyts I, Casanova JL, Lyons JJ, Parvaneh N, Nguyen ATV, Cancrini C, Heimall J, Ahmed H, McKinnon ML, Lau YL, Béziat V, Turvey SE. Sharma M, et al. Among authors: del bel kl. J Exp Med. 2023 May 1;220(5):e20221755. doi: 10.1084/jem.20221755. Epub 2023 Mar 8. J Exp Med. 2023. PMID: 36884218 Free PMC article.
Combined immunodeficiency associated with homozygous MALT1 mutations.
McKinnon ML, Rozmus J, Fung SY, Hirschfeld AF, Del Bel KL, Thomas L, Marr N, Martin SD, Marwaha AK, Priatel JJ, Tan R, Senger C, Tsang A, Prendiville J, Junker AK, Seear M, Schultz KR, Sly LM, Holt RA, Patel MS, Friedman JM, Turvey SE. McKinnon ML, et al. Among authors: del bel kl. J Allergy Clin Immunol. 2014 May;133(5):1458-62, 1462.e1-7. doi: 10.1016/j.jaci.2013.10.045. Epub 2013 Dec 12. J Allergy Clin Immunol. 2014. PMID: 24332264 Clinical Trial. No abstract available.
The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus.
Ragotte RJ, Dhanrajani A, Pleydell-Pearce J, Del Bel KL, Tarailo-Graovac M, van Karnebeek C, Terry J, Senger C, McKinnon ML, Seear M, Prendiville JS, Tucker LB, Houghton K, Cabral DA, Guzman J, Petty RE, Brown KL, Tekano J, Wu J, Morishita KA, Turvey SE. Ragotte RJ, et al. Among authors: del bel kl. Clin Immunol. 2017 Feb;175:143-146. doi: 10.1016/j.clim.2016.12.006. Epub 2016 Dec 31. Clin Immunol. 2017. PMID: 28043923
32 results