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Page 1
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. Among authors: perez l, perez n. 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
Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.
Kagawa R, Fujiki R, Tsumura M, Sakata S, Nishimura S, Itan Y, Kong XF, Kato Z, Ohnishi H, Hirata O, Saito S, Ikeda M, El Baghdadi J, Bousfiha A, Fujiwara K, Oleastro M, Yancoski J, Perez L, Danielian S, Ailal F, Takada H, Hara T, Puel A, Boisson-Dupuis S, Bustamante J, Casanova JL, Ohara O, Okada S, Kobayashi M. Kagawa R, et al. Among authors: perez l. J Allergy Clin Immunol. 2017 Jul;140(1):232-241. doi: 10.1016/j.jaci.2016.09.035. Epub 2016 Dec 20. J Allergy Clin Immunol. 2017. PMID: 28011069 Free PMC article.
Inherited p40phox deficiency differs from classic chronic granulomatous disease.
van de Geer A, Nieto-Patlán A, Kuhns DB, Tool AT, Arias AA, Bouaziz M, de Boer M, Franco JL, Gazendam RP, van Hamme JL, van Houdt M, van Leeuwen K, Verkuijlen PJ, van den Berg TK, Alzate JF, Arango-Franco CA, Batura V, Bernasconi AR, Boardman B, Booth C, Burns SO, Cabarcas F, Bensussan NC, Charbit-Henrion F, Corveleyn A, Deswarte C, Azcoiti ME, Foell D, Gallin JI, Garcés C, Guedes M, Hinze CH, Holland SM, Hughes SM, Ibañez P, Malech HL, Meyts I, Moncada-Velez M, Moriya K, Neves E, Oleastro M, Perez L, Rattina V, Oleaga-Quintas C, Warner N, Muise AM, López JS, Trindade E, Vasconcelos J, Vermeire S, Wittkowski H, Worth A, Abel L, Dinauer MC, Arkwright PD, Roos D, Casanova JL, Kuijpers TW, Bustamante J. van de Geer A, et al. Among authors: perez l. J Clin Invest. 2018 Aug 31;128(9):3957-3975. doi: 10.1172/JCI97116. Epub 2018 Aug 6. J Clin Invest. 2018. PMID: 29969437 Free PMC article.
Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency.
Rosain J, Bernasconi A, Prieto E, Caputi L, Le Voyer T, Buda G, Marti M, Bohlen J, Neehus AL, Castaños C, Gallagher R, Dorgham K, Oleastro M, Perez L, Danielian S, Dipierri JE, Casanova JL, Bustamante J, Villa M. Rosain J, et al. Among authors: perez l. J Clin Immunol. 2022 Jul;42(5):975-985. doi: 10.1007/s10875-022-01250-4. Epub 2022 Mar 26. J Clin Immunol. 2022. PMID: 35338423 Free PMC article.
Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria.
Rosain J, Neehus AL, Manry J, Yang R, Le Pen J, Daher W, Liu Z, Chan YH, Tahuil N, Türel Ö, Bourgey M, Ogishi M, Doisne JM, Izquierdo HM, Shirasaki T, Le Voyer T, Guérin A, Bastard P, Moncada-Vélez M, Han JE, Khan T, Rapaport F, Hong SH, Cheung A, Haake K, Mindt BC, Pérez L, Philippot Q, Lee D, Zhang P, Rinchai D, Al Ali F, Ahmad Ata MM, Rahman M, Peel JN, Heissel S, Molina H, Kendir-Demirkol Y, Bailey R, Zhao S, Bohlen J, Mancini M, Seeleuthner Y, Roelens M, Lorenzo L, Soudée C, Paz MEJ, González ML, Jeljeli M, Soulier J, Romana S, L'Honneur AS, Materna M, Martínez-Barricarte R, Pochon M, Oleaga-Quintas C, Michev A, Migaud M, Lévy R, Alyanakian MA, Rozenberg F, Croft CA, Vogt G, Emile JF, Kremer L, Ma CS, Fritz JH, Lemon SM, Spaan AN, Manel N, Abel L, MacDonald MR, Boisson-Dupuis S, Marr N, Tangye SG, Di Santo JP, Zhang Q, Zhang SY, Rice CM, Béziat V, Lachmann N, Langlais D, Casanova JL, Gros P, Bustamante J. Rosain J, et al. Among authors: perez l, l honneur as. Cell. 2023 Feb 2;186(3):621-645.e33. doi: 10.1016/j.cell.2022.12.038. Cell. 2023. PMID: 36736301 Free PMC article.
Neutralizing IFN-γ autoantibodies are rare and pathogenic in HLA-DRB1*15:02 or 16:02 individuals.
Peel JN, Yang R, Le Voyer T, Gervais A, Rosain J, Bastard P, Behere A, Cederholm A, Bodansky A, Seeleuthner Y, Conil C, Ding JY, Lei WT, Bizien L, Soudee C, Migaud M, Ogishi M, Yatim A, Lee D, Bohlen J, Perpoint T, Perez L, Messina F, Genet R, Karkowski L, Blot M, Lafont E, Toullec L, Goulvestre C, Mehlal-Sedkaoui S, Sallette J, Martin F, Puel A, Jouanguy E; CONSTANCES cohort; 3C-Dijon Study; Etablissement du Sang study group; Anderson MS, Landegren N, Tiberghien P, Abel L, Boisson-Dupuis S, Bustamante J, Ku CL, Casanova JL. Peel JN, et al. Among authors: perez l. J Clin Invest. 2024 Mar 12;134(8):e178263. doi: 10.1172/JCI178263. J Clin Invest. 2024. PMID: 38470480 Free PMC article.
2,212 results