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Page 1
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: bacchetta r. 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.
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: bacchetta r. 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
Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.
Mazza C, Buzi F, Ortolani F, Vitali A, Notarangelo LD, Weber G, Bacchetta R, Soresina A, Lougaris V, Greggio NA, Taddio A, Pasic S, de Vroede M, Pac M, Kilic SS, Ozden S, Rusconi R, Martino S, Capalbo D, Salerno M, Pignata C, Radetti G, Maggiore G, Plebani A, Notarangelo LD, Badolato R. Mazza C, et al. Among authors: bacchetta r. Clin Immunol. 2011 Apr;139(1):6-11. doi: 10.1016/j.clim.2010.12.021. Epub 2011 Feb 3. Clin Immunol. 2011. PMID: 21295522
IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts.
Berglund LJ, Avery DT, Ma CS, Moens L, Deenick EK, Bustamante J, Boisson-Dupuis S, Wong M, Adelstein S, Arkwright PD, Bacchetta R, Bezrodnik L, Dadi H, Roifman CM, Fulcher DA, Ziegler JB, Smart JM, Kobayashi M, Picard C, Durandy A, Cook MC, Casanova JL, Uzel G, Tangye SG. Berglund LJ, et al. Among authors: bacchetta r. Blood. 2013 Dec 5;122(24):3940-50. doi: 10.1182/blood-2013-06-506865. Epub 2013 Oct 24. Blood. 2013. PMID: 24159173 Free PMC article.
Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian Primary Immunodeficiency Network centers (IPINet) and review of the literature.
Moschese V, Martire B, Soresina A, Chini L, Graziani S, Monteferrario E, Bacchetta R, Cancrini C, Fiorilli M, Gambineri E, Pession A, Pignata C, Quinti I, Rondelli R, Rossi P, Ugazio AG, Plebani A, Pietrogrande MC. Moschese V, et al. Among authors: bacchetta r. J Biol Regul Homeost Agents. 2013 Oct-Dec;27(4):935-46. J Biol Regul Homeost Agents. 2013. PMID: 24382174 Review.
Clinical features and follow-up in patients with 22q11.2 deletion syndrome.
Cancrini C, Puliafito P, Digilio MC, Soresina A, Martino S, Rondelli R, Consolini R, Ruga EM, Cardinale F, Finocchi A, Romiti ML, Martire B, Bacchetta R, Albano V, Carotti A, Specchia F, Montin D, Cirillo E, Cocchi G, Trizzino A, Bossi G, Milanesi O, Azzari C, Corsello G, Pignata C, Aiuti A, Pietrogrande MC, Marino B, Ugazio AG, Plebani A, Rossi P; Italian Network for Primary Immunodeficiencies. Cancrini C, et al. Among authors: bacchetta r. J Pediatr. 2014 Jun;164(6):1475-80.e2. doi: 10.1016/j.jpeds.2014.01.056. Epub 2014 Mar 20. J Pediatr. 2014. PMID: 24657119
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.
Barzaghi F, Amaya Hernandez LC, Neven B, Ricci S, Kucuk ZY, Bleesing JJ, Nademi Z, Slatter MA, Ulloa ER, Shcherbina A, Roppelt A, Worth A, Silva J, Aiuti A, Murguia-Favela L, Speckmann C, Carneiro-Sampaio M, Fernandes JF, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Schulz A, Steinmann S, Notarangelo LD, Gambineri E, Lionetti P, Shearer WT, Forbes LR, Martinez C, Moshous D, Blanche S, Fisher A, Ruemmele FM, Tissandier C, Ouachee-Chardin M, Rieux-Laucat F, Cavazzana M, Qasim W, Lucarelli B, Albert MH, Kobayashi I, Alonso L, Diaz De Heredia C, Kanegane H, Lawitschka A, Seo JJ, Gonzalez-Vicent M, Diaz MA, Goyal RK, Sauer MG, Yesilipek A, Kim M, Yilmaz-Demirdag Y, Bhatia M, Khlevner J, Richmond Padilla EJ, Martino S, Montin D, Neth O, Molinos-Quintana A, Valverde-Fernandez J, Broides A, Pinsk V, Ballauf A, Haerynck F, Bordon V, Dhooge C, Garcia-Lloret ML, Bredius RG, Kałwak K, Haddad E, Seidel MG, Duckers G, Pai SY, Dvorak CC, Ehl S, Locatelli F, Goldman F, Gennery AR, Cowan MJ, Roncarolo MG, Bacchetta R; Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT). Barzaghi F, et al. Among authors: bacchetta r. J Allergy Clin Immunol. 2018 Mar;141(3):1036-1049.e5. doi: 10.1016/j.jaci.2017.10.041. Epub 2017 Dec 11. J Allergy Clin Immunol. 2018. PMID: 29241729 Free PMC article. Clinical Trial.
The autoimmune targets in IPEX are dominated by gut epithelial proteins.
Eriksson D, Bacchetta R, Gunnarsson HI, Chan A, Barzaghi F, Ehl S, Hallgren Å, van Gool F, Sardh F, Lundqvist C, Laakso SM, Rönnblom A, Ekwall O, Mäkitie O, Bensing S, Husebye ES, Anderson M, Kämpe O, Landegren N. Eriksson D, et al. Among authors: bacchetta r. J Allergy Clin Immunol. 2019 Jul;144(1):327-330.e8. doi: 10.1016/j.jaci.2019.02.031. Epub 2019 Apr 23. J Allergy Clin Immunol. 2019. PMID: 31027649 Free article. No abstract available.
Clinical improvement and normalized Th1 cytokine profile in early and long-term interferon-alpha treatment in a suspected case of hyper-IgE syndrome.
Benninghoff U, Cattaneo F, Aiuti A, Flores-D'Arcais A, Gelmetti C, Viscardi M, Callegaro L, Mirolo M, Ambrosi A, Roncarolo MG, Bacchetta R. Benninghoff U, et al. Among authors: bacchetta r. Pediatr Allergy Immunol. 2008 Sep;19(6):564-8. doi: 10.1111/j.1399-3038.2007.00683.x. Pediatr Allergy Immunol. 2008. PMID: 18844858
172 results