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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: biggs cm. 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.
Germline CBM-opathies: From immunodeficiency to atopy.
Lu HY, Biggs CM, Blanchard-Rohner G, Fung SY, Sharma M, Turvey SE. Lu HY, et al. Among authors: biggs cm. J Allergy Clin Immunol. 2019 May;143(5):1661-1673. doi: 10.1016/j.jaci.2019.03.009. J Allergy Clin Immunol. 2019. PMID: 31060714 Review.
Recurrent sterile abscesses in a case of X-linked neutropenia.
Biggs CM, Modi B, Steinraths M, Del Bel K, Pourshahnazari P, Griffiths C, Forrest DM, Prendiville J, Dutz JP, Turvey SE, Cameron SB. Biggs CM, et al. Pediatr Dermatol. 2020 Jul;37(4):742-744. doi: 10.1111/pde.14146. Epub 2020 Mar 23. Pediatr Dermatol. 2020. PMID: 32202653
Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy.
Modi BP, Del Bel KL, Lin S, Sharma M, Richmond PA, van Karnebeek CDM, Chan ES, Avinashi V, Rehmus WE, Biggs CM, Wasserman WW, Turvey SE. Modi BP, et al. Among authors: biggs cm. Allergy Asthma Clin Immunol. 2021 Jan 14;17(1):9. doi: 10.1186/s13223-021-00510-z. Allergy Asthma Clin Immunol. 2021. PMID: 33446255 Free PMC article.
67 results