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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.
2,121 results