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Page 1
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
Baxter SK, Walsh T, Casadei S, Eckert MM, Allenspach EJ, Hagin D, Segundo G, Lee MK, Gulsuner S, Shirts BH, Sullivan KE, Keller MD, Torgerson TR, King MC. Baxter SK, et al. Among authors: allenspach ej. J Allergy Clin Immunol. 2022 Jan;149(1):327-339. doi: 10.1016/j.jaci.2021.04.005. Epub 2021 Apr 20. J Allergy Clin Immunol. 2022. PMID: 33864888 Free PMC article.
Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome.
Kolhatkar NS, Brahmandam A, Thouvenel CD, Becker-Herman S, Jacobs HM, Schwartz MA, Allenspach EJ, Khim S, Panigrahi AK, Luning Prak ET, Thrasher AJ, Notarangelo LD, Candotti F, Torgerson TR, Sanz I, Rawlings DJ. Kolhatkar NS, et al. Among authors: allenspach ej. J Exp Med. 2015 Sep 21;212(10):1663-77. doi: 10.1084/jem.20150585. Epub 2015 Sep 14. J Exp Med. 2015. PMID: 26371186 Free PMC article.
Autoimmunity and Primary Immunodeficiency Disorders.
Allenspach E, Torgerson TR. Allenspach E, et al. J Clin Immunol. 2016 May;36 Suppl 1:57-67. doi: 10.1007/s10875-016-0294-1. Epub 2016 May 23. J Clin Immunol. 2016. PMID: 27210535 Review.
Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.
Tirosh I, Yamazaki Y, Frugoni F, Ververs FA, Allenspach EJ, Zhang Y, Burns S, Al-Herz W, Noroski L, Walter JE, Gennery AR, van der Burg M, Notarangelo LD, Lee YN. Tirosh I, et al. Among authors: allenspach ej. J Allergy Clin Immunol. 2019 Feb;143(2):726-735. doi: 10.1016/j.jaci.2018.04.027. Epub 2018 Jun 18. J Allergy Clin Immunol. 2019. PMID: 29772310 Free PMC article.
Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations.
Forbes LR, Vogel TP, Cooper MA, Castro-Wagner J, Schussler E, Weinacht KG, Plant AS, Su HC, Allenspach EJ, Slatter M, Abinun M, Lilic D, Cunningham-Rundles C, Eckstein O, Olbrich P, Guillerman RP, Patel NC, Demirdag YY, Zerbe C, Freeman AF, Holland SM, Szabolcs P, Gennery A, Torgerson TR, Milner JD, Leiding JW. Forbes LR, et al. Among authors: allenspach ej. J Allergy Clin Immunol. 2018 Nov;142(5):1665-1669. doi: 10.1016/j.jaci.2018.07.020. Epub 2018 Aug 6. J Allergy Clin Immunol. 2018. PMID: 30092289 Free PMC article.
Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.
Gambineri E, Ciullini Mannurita S, Hagin D, Vignoli M, Anover-Sombke S, DeBoer S, Segundo GRS, Allenspach EJ, Favre C, Ochs HD, Torgerson TR. Gambineri E, et al. Among authors: allenspach ej. Front Immunol. 2018 Nov 1;9:2411. doi: 10.3389/fimmu.2018.02411. eCollection 2018. Front Immunol. 2018. PMID: 30443250 Free PMC article.
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.
de Jesus AA, Hou Y, Brooks S, Malle L, Biancotto A, Huang Y, Calvo KR, Marrero B, Moir S, Oler AJ, Deng Z, Montealegre Sanchez GA, Ahmed A, Allenspach E, Arabshahi B, Behrens E, Benseler S, Bezrodnik L, Bout-Tabaku S, Brescia AC, Brown D, Burnham JM, Caldirola MS, Carrasco R, Chan AY, Cimaz R, Dancey P, Dare J, DeGuzman M, Dimitriades V, Ferguson I, Ferguson P, Finn L, Gattorno M, Grom AA, Hanson EP, Hashkes PJ, Hedrich CM, Herzog R, Horneff G, Jerath R, Kessler E, Kim H, Kingsbury DJ, Laxer RM, Lee PY, Lee-Kirsch MA, Lewandowski L, Li S, Lilleby V, Mammadova V, Moorthy LN, Nasrullayeva G, O'Neil KM, Onel K, Ozen S, Pan N, Pillet P, Piotto DG, Punaro MG, Reiff A, Reinhardt A, Rider LG, Rivas-Chacon R, Ronis T, Rösen-Wolff A, Roth J, Ruth NM, Rygg M, Schmeling H, Schulert G, Scott C, Seminario G, Shulman A, Sivaraman V, Son MB, Stepanovskiy Y, Stringer E, Taber S, Terreri MT, Tifft C, Torgerson T, Tosi L, Van Royen-Kerkhof A, Wampler Muskardin T, Canna SW, Goldbach-Mansky R. de Jesus AA, et al. J Clin Invest. 2020 Apr 1;130(4):1669-1682. doi: 10.1172/JCI129301. J Clin Invest. 2020. PMID: 31874111 Free PMC article. Clinical Trial.
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