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Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.
Woellner C, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker EO, Pietrogrande MC, Cossu F, Franco JL, Matamoros N, Pietrucha B, Heropolitańska-Pliszka E, Yeganeh M, Moin M, Español T, Ehl S, Gennery AR, Abinun M, Breborowicz A, Niehues T, Kilic SS, Junker A, Turvey SE, Plebani A, Sánchez B, Garty BZ, Pignata C, Cancrini C, Litzman J, Sanal O, Baumann U, Bacchetta R, Hsu AP, Davis JN, Hammarström L, Davies EG, Eren E, Arkwright PD, Moilanen JS, Viemann D, Khan S, Maródi L, Cant AJ, Freeman AF, Puck JM, Holland SM, Grimbacher B. Woellner C, et al. Among authors: junker a. J Allergy Clin Immunol. 2010 Feb;125(2):424-432.e8. doi: 10.1016/j.jaci.2009.10.059. J Allergy Clin Immunol. 2010. PMID: 20159255 Free PMC article.
A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.
Novice T, Kariminia A, Del Bel KL, Lu H, Sharma M, Lim CJ, Read J, Lugt MV, Hannibal MC, O'Dwyer D, Hosler M, Scharnitz T, Rizzo JM, Zacur J, Priatel J, Abdossamadi S, Bohm A, Junker A, Turvey SE, Schultz KR, Rozmus J. Novice T, et al. Among authors: junker a. J Clin Immunol. 2020 Feb;40(2):267-276. doi: 10.1007/s10875-019-00731-3. Epub 2019 Dec 19. J Clin Immunol. 2020. PMID: 31853824 Free PMC article.
Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.
Gambineri E, Perroni L, Passerini L, Bianchi L, Doglioni C, Meschi F, Bonfanti R, Sznajer Y, Tommasini A, Lawitschka A, Junker A, Dunstheimer D, Heidemann PH, Cazzola G, Cipolli M, Friedrich W, Janic D, Azzi N, Richmond E, Vignola S, Barabino A, Chiumello G, Azzari C, Roncarolo MG, Bacchetta R. Gambineri E, et al. Among authors: junker a. J Allergy Clin Immunol. 2008 Dec;122(6):1105-1112.e1. doi: 10.1016/j.jaci.2008.09.027. Epub 2008 Oct 25. J Allergy Clin Immunol. 2008. PMID: 18951619
423 results