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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P… See abstract for full author list ➔ Leiding JW, et al. Among authors: palma a. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 Free PMC article.
Germline hypomorphic CARD11 mutations in severe atopic disease.
Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg N, Meffre E, Gelfand EW, Snow AL, Milner JD. Ma CA, et al. Among authors: palma a. Nat Genet. 2017 Aug;49(8):1192-1201. doi: 10.1038/ng.3898. Epub 2017 Jun 19. Nat Genet. 2017. PMID: 28628108 Free PMC article.
Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.
Sbihi Z, Tanita K, Bachelet C, Bole C, Jabot-Hanin F, Tores F, Le Loch M, Khodr R, Hoshino A, Lenoir C, Oleastro M, Villa M, Spossito L, Prieto E, Danielian S, Brunet E, Picard C, Taga T, Abdrabou SSMA, Isoda T, Yamada M, Palma A, Kanegane H, Latour S. Sbihi Z, et al. Among authors: palma a. J Clin Immunol. 2022 Apr;42(3):559-571. doi: 10.1007/s10875-021-01188-z. Epub 2022 Jan 9. J Clin Immunol. 2022. PMID: 35000057 Free article.
[Microsporum gypseum dermatophytosis in a child with primary immunodeficiency].
Stefano PC, Velasquez LA, Berberian G, Simonetti E, Palma A, Álvarez M, Yancoski J, Bernasconi A, Oleastro M, Cervini AB. Stefano PC, et al. Among authors: palma a. Arch Argent Pediatr. 2022 Jun;120(3):e128-e132. doi: 10.5546/aap.2022.e128. Arch Argent Pediatr. 2022. PMID: 35533125 Free article. Spanish.
Expanding spectrum, intrafamilial diversity, and therapeutic challenges from 15 patients with heterozygous CARD11-associated diseases: A single center experience.
Urdinez L, Erra L, Palma AM, Mercogliano MF, Fernandez JB, Prieto E, Goris V, Bernasconi A, Sanz M, Villa M, Bouso C, Caputi L, Quesada B, Solis D, Aguirre Bruzzo A, Katsicas MM, Galluzzo L, Weyersberg C, Bocian M, Bujan MM, Oleastro M, Almejun MB, Danielian S. Urdinez L, et al. Among authors: palma am. Front Immunol. 2022 Nov 3;13:1020927. doi: 10.3389/fimmu.2022.1020927. eCollection 2022. Front Immunol. 2022. PMID: 36405754 Free PMC article.
Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic disease.
Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg ND, Meffre E, Gelfand EW, Snow AL, Milner JD. Ma CA, et al. Among authors: palma a. Nat Genet. 2017 Oct 27;49(11):1661. doi: 10.1038/ng1117-1661b. Nat Genet. 2017. PMID: 29074947
Robotic thymectomy in thymic tumors: a multicenter, nation-wide study.
Comacchio GM, Schiavon M, Zirafa CC, De Palma A, Scaramuzzi R, Meacci E, Bongiolatti S, Monaci N, Lyberis P, Novellis P, Brandolini J, Parini S, Ricciardi S, D'Andrilli A, Bottoni E, Gallina FT, Marino MC, Lorenzoni G, Francavilla A, Rendina EA, Cardillo G, Rena O, Solli P, Alloisio M, Luzzi L, Facciolo F, Voltolini L, Margaritora S, Curcio C, Marulli G, Ruffini E, Veronesi G, Melfi F, Rea F. Comacchio GM, et al. Among authors: de palma a. Eur J Cardiothorac Surg. 2024 Apr 25:ezae178. doi: 10.1093/ejcts/ezae178. Online ahead of print. Eur J Cardiothorac Surg. 2024. PMID: 38663851
1,520 results