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Page 1
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
Le Voyer T, Sakata S, Tsumura M, Khan T, Esteve-Sole A, Al-Saud BK, Gungor HE, Taur P, Jeanne-Julien V, Christiansen M, Köhler LM, ElGhazali GE, Rosain J, Nishimura S, Sakura F, Bouaziz M, Oleaga-Quintas C, Nieto-Patlán A, Deyà-Martinez À, Altuner Torun Y, Neehus AL, Roynard M, Bozdemir SE, Al Kaabi N, Al Hassani M, Mersiyanova I, Rozenberg F, Speckmann C, Hainmann I, Hauck F, Alzahrani MH, Alhajjar SH, Al-Muhsen S, Cole T, Fuleihan R, Arkwright PD, Badolato R, Alsina L, Abel L, Desai M, Al-Mousa H, Shcherbina A, Marr N, Boisson-Dupuis S, Casanova JL, Okada S, Bustamante J. Le Voyer T, et al. Among authors: oleaga quintas c. J Immunol. 2021 Jul 1;207(1):133-152. doi: 10.4049/jimmunol.2001451. Epub 2021 Jun 28. J Immunol. 2021. PMID: 34183371 Free PMC article.
Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.
Esteve-Solé A, Sologuren I, Martínez-Saavedra MT, Deyà-Martínez À, Oleaga-Quintas C, Martinez-Barricarte R, Martin-Nalda A, Juan M, Casanova JL, Rodriguez-Gallego C, Alsina L, Bustamante J. Esteve-Solé A, et al. Crit Rev Clin Lab Sci. 2018 May;55(3):184-204. doi: 10.1080/10408363.2018.1444580. Epub 2018 Mar 4. Crit Rev Clin Lab Sci. 2018. PMID: 29502462 Free PMC article. Review.
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.
Rosain J, Oleaga-Quintas C, Deswarte C, Verdin H, Marot S, Syridou G, Mansouri M, Mahdaviani SA, Venegas-Montoya E, Tsolia M, Mesdaghi M, Chernyshova L, Stepanovskiy Y, Parvaneh N, Mansouri D, Pedraza-Sánchez S, Bondarenko A, Espinosa-Padilla SE, Yamazaki-Nakashimada MA, Nieto-Patlán A, Kerner G, Lambert N, Jacques C, Corvilain E, Migaud M, Grandin V, Herrera MT, Jabot-Hanin F, Boisson-Dupuis S, Picard C, Nitschke P, Puel A, Tores F, Abel L, Blancas-Galicia L, De Baere E, Bole-Feysot C, Casanova JL, Bustamante J. Rosain J, et al. J Clin Immunol. 2018 Jul;38(5):617-627. doi: 10.1007/s10875-018-0527-6. Epub 2018 Jul 11. J Clin Immunol. 2018. PMID: 29995221 Free PMC article. Review.
Mendelian susceptibility to mycobacterial disease: 2014-2018 update.
Rosain J, Kong XF, Martinez-Barricarte R, Oleaga-Quintas C, Ramirez-Alejo N, Markle J, Okada S, Boisson-Dupuis S, Casanova JL, Bustamante J. Rosain J, et al. Immunol Cell Biol. 2019 Apr;97(4):360-367. doi: 10.1111/imcb.12210. Epub 2018 Oct 25. Immunol Cell Biol. 2019. PMID: 30264912 Free PMC article. Review.
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.
Oleaga-Quintas C, Deswarte C, Moncada-Vélez M, Metin A, Krishna Rao I, Kanık-Yüksek S, Nieto-Patlán A, Guérin A, Gülhan B, Murthy S, Özkaya-Parlakay A, Abel L, Martínez-Barricarte R, Pérez de Diego R, Boisson-Dupuis S, Kong XF, Casanova JL, Bustamante J. Oleaga-Quintas C, et al. Hum Mol Genet. 2018 Nov 15;27(22):3919-3935. doi: 10.1093/hmg/ddy275. Hum Mol Genet. 2018. PMID: 31222290 Free PMC article.
LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency.
Rosain J, Deswarte C, Hancioglu G, Oleaga-Quintas C, Kutlug S, Kartal I, Kuzu I, Toullec L, Tusseau M, Casanova JL, Yildiran A, Bustamante J. Rosain J, et al. Among authors: oleaga quintas c. J Clin Immunol. 2019 Oct;39(7):739-742. doi: 10.1007/s10875-019-00667-8. Epub 2019 Aug 3. J Clin Immunol. 2019. PMID: 31377971 Free PMC article. No abstract available.
Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway.
Haake K, Neehus AL, Buchegger T, Kühnel MP, Blank P, Philipp F, Oleaga-Quintas C, Schulz A, Grimley M, Goethe R, Jonigk D, Kalinke U, Boisson-Dupuis S, Casanova JL, Bustamante J, Lachmann N. Haake K, et al. Among authors: oleaga quintas c. Cells. 2020 Feb 19;9(2):483. doi: 10.3390/cells9020483. Cells. 2020. PMID: 32093117 Free PMC article.
Inherited human IFN-γ deficiency underlies mycobacterial disease.
Kerner G, Rosain J, Guérin A, Al-Khabaz A, Oleaga-Quintas C, Rapaport F, Massaad MJ, Ding JY, Khan T, Ali FA, Rahman M, Deswarte C, Martinez-Barricarte R, Geha RS, Jeanne-Julien V, Garcia D, Chi CY, Yang R, Roynard M, Fleckenstein B, Rozenberg F, Boisson-Dupuis S, Ku CL, Seeleuthner Y, Béziat V, Marr N, Abel L, Al-Herz W, Casanova JL, Bustamante J. Kerner G, et al. Among authors: oleaga quintas c. J Clin Invest. 2020 Jun 1;130(6):3158-3171. doi: 10.1172/JCI135460. J Clin Invest. 2020. PMID: 32163377 Free PMC article.
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.
Oleaga-Quintas C, de Oliveira-Júnior EB, Rosain J, Rapaport F, Deswarte C, Guérin A, Sajjath SM, Zhou YJ, Marot S, Lozano C, Branco L, Fernández-Hidalgo N, Lew DB, Brunel AS, Thomas C, Launay E, Arias AA, Cuffel A, Monjo VC, Neehus AL, Marques L, Roynard M, Moncada-Vélez M, Gerçeker B, Colobran R, Vigué MG, Lopez-Herrera G, Berron-Ruiz L, Méndez NHS, O'Farrill Romanillos P, Le Voyer T, Puel A, Bellanné-Chantelot C, Ramirez KA, Lorenzo-Diaz L, Alejo NR, de Diego RP, Condino-Neto A, Mellouli F, Rodriguez-Gallego C, Witte T, Restrepo JF, Jobim M, Boisson-Dupuis S, Jeziorski E, Fieschi C, Vogt G, Donadieu J, Pasquet M, Vasconcelos J, Ardeniz FO, Martínez-Gallo M, Campos RA, Jobim LF, Martínez-Barricarte R, Liu K, Cobat A, Abel L, Casanova JL, Bustamante J. Oleaga-Quintas C, et al. J Clin Immunol. 2021 Apr;41(3):639-657. doi: 10.1007/s10875-020-00930-3. Epub 2021 Jan 8. J Clin Immunol. 2021. PMID: 33417088 Free PMC article.
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.
Oleaga-Quintas C, Deswarte C, Moncada-Vélez M, Metin A, Krishna Rao I, Kanik-Yüksek S, Nieto-Patlán A, Guérin A, Gülhan B, Murthy S, Özkaya-Parlakay A, Abel L, Martínez-Barricarte R, Pérez de Diego R, Boisson-Dupuis S, Kong XF, Casanova JL, Bustamante J. Oleaga-Quintas C, et al. Hum Mol Genet. 2019 Feb 1;28(3):524. doi: 10.1093/hmg/ddy357. Hum Mol Genet. 2019. PMID: 30329057 Free PMC article. No abstract available.
20 results