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Page 1
X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world.
El-Sayed ZA, Abramova I, Aldave JC, Al-Herz W, Bezrodnik L, Boukari R, Bousfiha AA, Cancrini C, Condino-Neto A, Dbaibo G, Derfalvi B, Dogu F, Edgar JDM, Eley B, El-Owaidy RH, Espinosa-Padilla SE, Galal N, Haerynck F, Hanna-Wakim R, Hossny E, Ikinciogullari A, Kamal E, Kanegane H, Kechout N, Lau YL, Morio T, Moschese V, Neves JF, Ouederni M, Paganelli R, Paris K, Pignata C, Plebani A, Qamar FN, Qureshi S, Radhakrishnan N, Rezaei N, Rosario N, Routes J, Sanchez B, Sediva A, Seppanen MR, Serrano EG, Shcherbina A, Singh S, Siniah S, Spadaro G, Tang M, Vinet AM, Volokha A, Sullivan KE. El-Sayed ZA, et al. Among authors: pignata c. World Allergy Organ J. 2019 Mar 22;12(3):100018. doi: 10.1016/j.waojou.2019.100018. eCollection 2019. World Allergy Organ J. 2019. PMID: 30937141 Free PMC article.
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: pignata c. 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.
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: pignata c. J Biol Regul Homeost Agents. 2013 Oct-Dec;27(4):935-46. J Biol Regul Homeost Agents. 2013. PMID: 24382174 Review.
Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.
Cirillo E, Giardino G, Gallo V, Puliafito P, Azzari C, Bacchetta R, Cardinale F, Cicalese MP, Consolini R, Martino S, Martire B, Molinatto C, Plebani A, Scarano G, Soresina A, Cancrini C, Rossi P, Digilio MC, Pignata C. Cirillo E, et al. Among authors: pignata c. BMC Med Genet. 2014 Jan 2;15:1. doi: 10.1186/1471-2350-15-1. BMC Med Genet. 2014. PMID: 24383682 Free PMC article.
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: pignata c. 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
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Follow-up and outcome of symptomatic partial or absolute IgA deficiency in children.
Moschese V, Chini L, Graziani S, Sgrulletti M, Gallo V, Di Matteo G, Ferrari S, Di Cesare S, Cirillo E, Pession A, Pignata C, Specchia F. Moschese V, et al. Among authors: pignata c. Eur J Pediatr. 2019 Jan;178(1):51-60. doi: 10.1007/s00431-018-3248-1. Epub 2018 Sep 29. Eur J Pediatr. 2019. PMID: 30269248
Autosomal-dominant hyper-IgE syndrome is associated with appearance of infections early in life and/or neonatal rash: Evidence from the Italian cohort of 61 patients with elevated IgE.
Lorenzini T, Giacomelli M, Scomodon O, Cortesi M, Rivellini V, Dotta L, Soresina A, Dellepiane RM, Carrabba M, Cossu F, Cancrini C, Specchia F, Giardino G, Pignata C, Plebani A, Pietrogrande MC, Badolato R; IPINET (Italian Network for Primary Immunodeficiencies). Lorenzini T, et al. Among authors: pignata c. J Allergy Clin Immunol Pract. 2019 Jul-Aug;7(6):2072-2075.e4. doi: 10.1016/j.jaip.2019.02.012. Epub 2019 Feb 20. J Allergy Clin Immunol Pract. 2019. PMID: 30797078 No abstract available.
Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome.
Montin D, Marolda A, Licciardi F, Robasto F, Di Cesare S, Ricotti E, Ferro F, Scaioli G, Giancotta C, Amodio D, Conti F, Giardino G, Leonardi L, Ricci S, Volpi S, Baselli LA, Azzari C, Bossi G, Consolini R, Dellepiane RM, Duse M, Gattorno M, Martire B, Putti MC, Soresina A, Plebani A, Ramenghi U, Martino S, Pignata C, Cancrini C. Montin D, et al. Among authors: pignata c. J Allergy Clin Immunol Pract. 2019 Sep-Oct;7(7):2369-2376. doi: 10.1016/j.jaip.2019.03.014. Epub 2019 Mar 26. J Allergy Clin Immunol Pract. 2019. PMID: 30922987
269 results