Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

60 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation.
de la Morena MT, Leonard D, Torgerson TR, Cabral-Marques O, Slatter M, Aghamohammadi A, Chandra S, Murguia-Favela L, Bonilla FA, Kanariou M, Damrongwatanasuk R, Kuo CY, Dvorak CC, Meyts I, Chen K, Kobrynski L, Kapoor N, Richter D, DiGiovanni D, Dhalla F, Farmaki E, Speckmann C, Español T, Shcherbina A, Hanson IC, Litzman J, Routes JM, Wong M, Fuleihan R, Seneviratne SL, Small TN, Janda A, Bezrodnik L, Seger R, Raccio AG, Edgar JD, Chou J, Abbott JK, van Montfrans J, González-Granado LI, Bunin N, Kutukculer N, Gray P, Seminario G, Pasic S, Aquino V, Wysocki C, Abolhassani H, Dorsey M, Cunningham-Rundles C, Knutsen AP, Sleasman J, Costa Carvalho BT, Condino-Neto A, Grunebaum E, Chapel H, Ochs HD, Filipovich A, Cowan M, Gennery A, Cant A, Notarangelo LD, Roifman CM. de la Morena MT, et al. Among authors: digiovanni d. J Allergy Clin Immunol. 2017 Apr;139(4):1282-1292. doi: 10.1016/j.jaci.2016.07.039. Epub 2016 Sep 30. J Allergy Clin Immunol. 2017. PMID: 27697500 Free PMC article.
Comparative study of subcutaneous versus intravenous IgG replacement therapy in pediatric patients with primary immunodeficiency diseases: a multicenter study in Argentina.
Bezrodnik L, Gómez Raccio A, Belardinelli G, Regairaz L, Díaz Ballve D, Seminario G, Moreira I, Riganti C, Cantisano C, Díaz H, Di Giovanni D. Bezrodnik L, et al. J Clin Immunol. 2013 Oct;33(7):1216-22. doi: 10.1007/s10875-013-9916-z. Epub 2013 Jul 12. J Clin Immunol. 2013. PMID: 23846854
First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes.
Cabral-Marques O, Klaver S, Schimke LF, Ascendino ÉH, Khan TA, Pereira PV, Falcai A, Vargas-Hernández A, Santos-Argumedo L, Bezrodnik L, Moreira I, Seminario G, Di Giovanni D, Raccio AG, Porras O, Weber CW, Ferreira JF, Tavares FS, de Carvalho E, Valente CF, Kuntze G, Galicchio M, King A, Rosário-Filho NA, Grota MB, dos Santos Vilela MM, Di Gesu RS, Lima S, de Souza Moura L, Talesnik E, Mansour E, Roxo-Junior P, Aldave JC, Goudouris E, Pinto-Mariz F, Berrón-Ruiz L, Staines-Boone T, Calderón WO, del Carmen Zarate-Hernández M, Grumach AS, Sorensen R, Durandy A, Torgerson TR, Carvalho BT, Espinosa-Rosales F, Ochs HD, Condino-Neto A. Cabral-Marques O, et al. J Clin Immunol. 2014 Feb;34(2):146-56. doi: 10.1007/s10875-013-9980-4. Epub 2014 Jan 9. J Clin Immunol. 2014. PMID: 24402618
Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.
Conti F, Lugo-Reyes SO, Blancas Galicia L, He J, Aksu G, Borges de Oliveira E Jr, Deswarte C, Hubeau M, Karaca N, de Suremain M, Guérin A, Baba LA, Prando C, Guerrero GG, Emiroglu M, Öz FN, Yamazaki Nakashimada MA, Gonzalez Serrano E, Espinosa S, Barlan I, Pérez N, Regairaz L, Guidos Morales HE, Bezrodnik L, Di Giovanni D, Dbaibo G, Ailal F, Galicchio M, Oleastro M, Chemli J, Danielian S, Perez L, Ortega MC, Soto Lavin S, Hertecant J, Anal O, Kechout N, Al-Idrissi E, ElGhazali G, Bondarenko A, Chernyshova L, Ciznar P, Herbigneaux RM, Diabate A, Ndaga S, Konte B, Czarna A, Migaud M, Pedraza-Sánchez S, Zaidi MB, Vogt G, Blanche S, Benmustapha I, Mansouri D, Abel L, Boisson-Dupuis S, Mahlaoui N, Bousfiha AA, Picard C, Barbouche R, Al-Muhsen S, Espinosa-Rosales FJ, Kütükçüler N, Condino-Neto A, Casanova JL, Bustamante J. Conti F, et al. J Allergy Clin Immunol. 2016 Jul;138(1):241-248.e3. doi: 10.1016/j.jaci.2015.11.041. Epub 2016 Feb 28. J Allergy Clin Immunol. 2016. PMID: 26936803
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.
Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.
Petersheim D, Massaad MJ, Lee S, Scarselli A, Cancrini C, Moriya K, Sasahara Y, Lankester AC, Dorsey M, Di Giovanni D, Bezrodnik L, Ohnishi H, Nishikomori R, Tanita K, Kanegane H, Morio T, Gelfand EW, Jain A, Secord E, Picard C, Casanova JL, Albert MH, Torgerson TR, Geha RS. Petersheim D, et al. J Allergy Clin Immunol. 2018 Mar;141(3):1060-1073.e3. doi: 10.1016/j.jaci.2017.05.030. Epub 2017 Jun 17. J Allergy Clin Immunol. 2018. PMID: 28629746 Free PMC article.
CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics.
França TT, Barreiros LA, Salgado RC, Napoleão SMDS, Gomes LN, Ferreira JFS, Prando C, Weber CW, Di Gesu RSW, Montenegro C, Aranda CS, Kuntze G, Staines-Boone AT, Venegas-Montoya E, Becerra JCA, Bezrodnik L, Di Giovanni D, Moreira I, Seminario GA, Raccio ACG, Dorna MB, Rosário-Filho NA, Chong-Neto HJ, de Carvalho E, Grotta MB, Orellana JC, Dominguez MG, Porras O, Sasia L, Salvucci K, Garip E, Leite LFB, Forte WCN, Pinto-Mariz F, Goudouris E, Nuñez MEN, Schelotto M, Ruiz LB, Liberatore DI, Ochs HD, Cabral-Marques O, Condino-Neto A. França TT, et al. J Clin Immunol. 2022 Apr;42(3):514-526. doi: 10.1007/s10875-021-01182-5. Epub 2022 Jan 4. J Clin Immunol. 2022. PMID: 34982304
Correction to: CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics.
França TT, Barreiros LA, Salgado RC, da Silva Napoleão SM, Gomes LN, Ferreira JFS, Prando C, Weber CW, Di Gesu RSW, Montenegro C, Aranda CS, Kuntze G, Staines-Boone AT, Venegas-Montoya E, Becerra JCA, Bezrodnik L, Di Giovanni D, Moreira I, Seminario GA, Raccio ACG, de Barros Dorna M, Rosario-Filho NA, Chong-Neto HJ, de Carvalho E, Grotta MB, Orellana JC, Dominguez MG, Porras O, Sasia L, Salvucci K, Garip E, Leite LFB, Forte WCN, Pinto-Mariz F, Goudouris E, Nuñez MEN, Schelotto M, Ruiz LB, Liberatore DI, Ochs HD, Cabral-Marques O, Condino-Neto A. França TT, et al. J Clin Immunol. 2022 Apr;42(3):527-528. doi: 10.1007/s10875-022-01221-9. J Clin Immunol. 2022. PMID: 35129805 No abstract available.
A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease.
Scaglia PA, Martínez AS, Feigerlová E, Bezrodnik L, Gaillard MI, Di Giovanni D, Ballerini MG, Jasper HG, Heinrich JJ, Fang P, Domené HM, Rosenfeld RG, Hwa V. Scaglia PA, et al. J Clin Endocrinol Metab. 2012 May;97(5):E830-9. doi: 10.1210/jc.2011-2554. Epub 2012 Mar 14. J Clin Endocrinol Metab. 2012. PMID: 22419735
60 results