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JAK inhibition in early-onset somatic, nonclonal STAT5B gain-of-function disease.
Eisenberg R, Gans MD, Leahy TR, Gothe F, Perry C, Raffeld M, Xi L, Blackstone S, Ma C, Hambleton S, Milner JD. Eisenberg R, et al. Among authors: leahy tr. J Allergy Clin Immunol Pract. 2021 Feb;9(2):1008-1010.e2. doi: 10.1016/j.jaip.2020.11.050. Epub 2020 Dec 5. J Allergy Clin Immunol Pract. 2021. PMID: 33290916 Free PMC article. No abstract available.
Aortic Calcification in a Patient with a Gain-of-Function STAT1 Mutation.
Smyth AE, Kaleviste E, Snow A, Kisand K, McMahon CJ, Cant AJ, Leahy TR. Smyth AE, et al. Among authors: leahy tr. J Clin Immunol. 2018 May;38(4):468-470. doi: 10.1007/s10875-018-0513-z. Epub 2018 May 26. J Clin Immunol. 2018. PMID: 29804236 No abstract available.
Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea.
Ma CA, Xi L, Cauff B, DeZure A, Freeman AF, Hambleton S, Kleiner G, Leahy TR, O'Sullivan M, Makiya M, O'Regan G, Pittaluga S, Niemela J, Stoddard J, Rosenzweig SD, Raffeld M, Klion AD, Milner JD. Ma CA, et al. Among authors: leahy tr. Blood. 2017 Feb 2;129(5):650-653. doi: 10.1182/blood-2016-09-737817. Epub 2016 Dec 12. Blood. 2017. PMID: 27956386 Free PMC article. No abstract available.
Double Trouble? CMC with a Mutation in both AIRE and STAT1.
Al Dhanhani H, Al Shehri T, Lilic D, Buddles M, Kisand K, Maccari ME, Leahy TR. Al Dhanhani H, et al. Among authors: leahy tr. J Clin Immunol. 2018 Aug;38(6):635-637. doi: 10.1007/s10875-018-0536-5. Epub 2018 Jul 27. J Clin Immunol. 2018. PMID: 30054782 No abstract available.
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.
Angulo I, Vadas O, Garçon F, Banham-Hall E, Plagnol V, Leahy TR, Baxendale H, Coulter T, Curtis J, Wu C, Blake-Palmer K, Perisic O, Smyth D, Maes M, Fiddler C, Juss J, Cilliers D, Markelj G, Chandra A, Farmer G, Kielkowska A, Clark J, Kracker S, Debré M, Picard C, Pellier I, Jabado N, Morris JA, Barcenas-Morales G, Fischer A, Stephens L, Hawkins P, Barrett JC, Abinun M, Clatworthy M, Durandy A, Doffinger R, Chilvers ER, Cant AJ, Kumararatne D, Okkenhaug K, Williams RL, Condliffe A, Nejentsev S. Angulo I, et al. Among authors: leahy tr. Science. 2013 Nov 15;342(6160):866-71. doi: 10.1126/science.1243292. Epub 2013 Oct 17. Science. 2013. PMID: 24136356 Free PMC article.
69 results