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Page 1
The hyper-IgE syndromes.
Freeman AF, Holland SM. Freeman AF, et al. Immunol Allergy Clin North Am. 2008 May;28(2):277-91, viii. doi: 10.1016/j.iac.2008.01.005. Immunol Allergy Clin North Am. 2008. PMID: 18424333 Free PMC article. Review.
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.
Sampaio EP, Hsu AP, Pechacek J, Bax HI, Dias DL, Paulson ML, Chandrasekaran P, Rosen LB, Carvalho DS, Ding L, Vinh DC, Browne SK, Datta S, Milner JD, Kuhns DB, Long Priel DA, Sadat MA, Shiloh M, De Marco B, Alvares M, Gillman JW, Ramarathnam V, de la Morena M, Bezrodnik L, Moreira I, Uzel G, Johnson D, Spalding C, Zerbe CS, Wiley H, Greenberg DE, Hoover SE, Rosenzweig SD, Galgiani JN, Holland SM. Sampaio EP, et al. J Allergy Clin Immunol. 2013 Jun;131(6):1624-34. doi: 10.1016/j.jaci.2013.01.052. Epub 2013 Mar 28. J Allergy Clin Immunol. 2013. PMID: 23541320 Free PMC article.
A novel STAT1 mutation associated with disseminated mycobacterial disease.
Sampaio EP, Bax HI, Hsu AP, Kristosturyan E, Pechacek J, Chandrasekaran P, Paulson ML, Dias DL, Spalding C, Uzel G, Ding L, McFarland E, Holland SM. Sampaio EP, et al. J Clin Immunol. 2012 Aug;32(4):681-689. doi: 10.1007/s10875-012-9659-2. Epub 2012 Feb 29. J Clin Immunol. 2012. PMID: 22437822 Free PMC article.
GATA3 haploinsufficiency does not block allergic sensitization or atopic disease.
Lawrence MG, Leiding JW, Lyons JJ, Hsu AP, Nelson CC, Jones N, Fitzgerald A, Chien WW, Workman L, Platts-Mills TA, Brewer C, Gafni RI, Stone KD, Milner JD, Holland SM. Lawrence MG, et al. J Allergy Clin Immunol. 2016 Feb;137(2):627-629.e2. doi: 10.1016/j.jaci.2015.06.041. Epub 2015 Aug 15. J Allergy Clin Immunol. 2016. PMID: 26282285 Free PMC article. No abstract available.
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.
Uzel G, Sampaio EP, Lawrence MG, Hsu AP, Hackett M, Dorsey MJ, Noel RJ, Verbsky JW, Freeman AF, Janssen E, Bonilla FA, Pechacek J, Chandrasekaran P, Browne SK, Agharahimi A, Gharib AM, Mannurita SC, Yim JJ, Gambineri E, Torgerson T, Tran DQ, Milner JD, Holland SM. Uzel G, et al. J Allergy Clin Immunol. 2013 Jun;131(6):1611-23. doi: 10.1016/j.jaci.2012.11.054. Epub 2013 Mar 25. J Allergy Clin Immunol. 2013. PMID: 23534974 Free PMC article.