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Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality.
Lougaris V, Soresina A, Baronio M, Montin D, Martino S, Signa S, Volpi S, Zecca M, Marinoni M, Baselli LA, Dellepiane RM, Carrabba M, Fabio G, Putti MC, Cinetto F, Lunardi C, Gazzurelli L, Benvenuto A, Bertolini P, Conti F, Consolini R, Ricci S, Azzari C, Leonardi L, Duse M, Pulvirenti F, Milito C, Quinti I, Cancrini C, Finocchi A, Moschese V, Cirillo E, Crescenzi L, Spadaro G, Marasco C, Vacca A, Cardinale F, Martire B, Trizzino A, Licciardello M, Cossu F, Di Matteo G, Badolato R, Ferrari S, Giliani S, Pession A, Ugazio A, Pignata C, Plebani A. Lougaris V, et al. Among authors: signa s. J Allergy Clin Immunol. 2020 Aug;146(2):429-437. doi: 10.1016/j.jaci.2020.03.001. Epub 2020 Mar 10. J Allergy Clin Immunol. 2020. PMID: 32169379
CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.
Caorsi R, Rusmini M, Volpi S, Chiesa S, Pastorino C, Sementa AR, Uva P, Grossi A, Lanino E, Faraci M, Minoia F, Signa S, Picco P, Martini A, Ceccherini I, Gattorno M. Caorsi R, et al. Among authors: signa s. Front Immunol. 2018 Jan 29;8:2015. doi: 10.3389/fimmu.2017.02015. eCollection 2017. Front Immunol. 2018. PMID: 29434583 Free PMC article.
Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients.
Schena F, Penco F, Volpi S, Pastorino C, Caorsi R, Kalli F, Fenoglio D, Salis A, Bertoni A, Prigione I, Bocca P, Insalaco A, De Benedetti F, Antonini F, Grossi A, Signa S, Damonte G, Ceccherini I, Filaci G, Traggiai E, Gattorno M. Schena F, et al. Among authors: signa s. Eur J Immunol. 2021 Jan;51(1):206-219. doi: 10.1002/eji.202048549. Epub 2020 Aug 28. Eur J Immunol. 2021. PMID: 32707604 Free article.
Thymic Epithelial Cell Alterations and Defective Thymopoiesis Lead to Central and Peripheral Tolerance Perturbation in MHCII Deficiency.
Ferrua F, Bortolomai I, Fontana E, Di Silvestre D, Rigoni R, Marcovecchio GE, Draghici E, Brambilla F, Castiello MC, Delfanti G, Moshous D, Picard C, Taghon T, Bordon V, Schulz AS, Schuetz C, Giliani S, Soresina A, Gennery AR, Signa S, Dávila Saldaña BJ, Delmonte OM, Notarangelo LD, Roifman CM, Poliani PL, Uva P, Mauri PL, Villa A, Bosticardo M. Ferrua F, et al. Among authors: signa s. Front Immunol. 2021 Jun 15;12:669943. doi: 10.3389/fimmu.2021.669943. eCollection 2021. Front Immunol. 2021. PMID: 34211466 Free PMC article.
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).
Papa R, Rusmini M, Schena F, Traggiai E, Coccia MC, Caorsi R, Arrigo S, Pasetti F, Signa S, Barone P, Santamaria G, Spirito G, Sanges R, Vozzi D, Cavalli A, Gustincich S, Ravelli A, Gattorno M, Ceccherini I, Volpi S. Papa R, et al. Among authors: signa s. Clin Immunol. 2021 Oct;231:108837. doi: 10.1016/j.clim.2021.108837. Epub 2021 Aug 26. Clin Immunol. 2021. PMID: 34455097
Spontaneous NLRP3 inflammasome-driven IL-1-β secretion is induced in severe COVID-19 patients and responds to anakinra treatment.
Bertoni A, Penco F, Mollica H, Bocca P, Prigione I, Corcione A, Cangelosi D, Schena F, Del Zotto G, Amaro A, Paladino N, Pontali E, Feasi M, Signa S, Bustaffa M, Caorsi R, Palmeri S, Contini P, De Palma R, Pfeffer U, Uva P, Rubartelli A, Gattorno M, Volpi S. Bertoni A, et al. Among authors: signa s. J Allergy Clin Immunol. 2022 Oct;150(4):796-805. doi: 10.1016/j.jaci.2022.05.029. Epub 2022 Jul 11. J Allergy Clin Immunol. 2022. PMID: 35835255 Free PMC article.
Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine deaminase 2 deficiency.
Drago E, Garbarino F, Signa S, Grossi A, Schena F, Penco F, Santori E, Candotti F, Boztug K, Volpi S, Gattorno M, Caorsi R. Drago E, et al. Among authors: signa s. Front Immunol. 2022 Sep 9;13:937108. doi: 10.3389/fimmu.2022.937108. eCollection 2022. Front Immunol. 2022. PMID: 36159847 Free PMC article.
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report.
McDonnell J, Cousins K, Younger MEM, Lane A, Abolhassani H, Abraham RS, Al-Tamemi S, Aldave-Becerra JC, Al-Faris EH, Alfaro-Murillo A, AlKhater SA, Alsaati N, Doss AMA, Anderson M, Angarola E, Ariue B, Arnold DE, Assa'ad AH, Aytekin C, Bank M, Bergerson JRE, Bleesing J, Boesing J, Bouso C, Brodszki N, Cabanillas D, Cady C, Callahan MA, Caorsi R, Carbone J, Carrabba M, Castagnoli R, Catanzaro JR, Chan S, Chandra S, Chapdelaine H, Chavoshzadeh Z, Chong HJ, Connors L, Consonni F, Correa-Jimenez O, Cunningham-Rundles C, D'Astous-Gauthier K, Delmonte OM, Demirdag YY, Deshpande DR, Diaz-Cabrera NM, Dimitriades VR, El-Owaidy R, ElGhazali G, Al-Hammadi S, Fabio G, Faure AS, Feng J, Fernandez JM, Fill L, Franco GR, Frenck RW, Fuleihan RL, Giardino G, Galant-Swafford J, Gambineri E, Garabedian EK, Geerlinks AV, Goudouris E, Grecco O, Pan-Hammarström Q, Khani HHK, Hammarström L, Hartog NL, Heimall J, Hernandez-Molina G, Horner CC, Hostoffer RW, Hristova N, Hsiao KC, Ivankovich-Escoto G, Jaber F, Jalil M, Jamee M, Jean T, Jeong S, Jhaveri D, Jordan MB, Joshi AY, Kalkat A, Kanarek HJ, Kellner ES, Khojah A, Khoury R, Kokron CM, Kumar A, Lecerf K, Lehman HK, Leiding JW, Lesmana H, Lim XR, Lopes … See abstract for full author list ➔ McDonnell J, et al. Among authors: signa s. J Clin Immunol. 2024 Apr 5;44(4):86. doi: 10.1007/s10875-023-01613-5. J Clin Immunol. 2024. PMID: 38578389 Free PMC article.
41 results