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Page 1
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.
de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Jannière L, Rose Y, de Suremain M, Kong XF, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandené L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Blüetters-Sawatzki R, Bernhöft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Müller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PPW, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Özbek N, Aksu G, Keser M,… See abstract for full author list ➔ de Beaucoudrey L, et al. Among authors: sanal o. Medicine (Baltimore). 2010 Nov;89(6):381-402. doi: 10.1097/MD.0b013e3181fdd832. Medicine (Baltimore). 2010. PMID: 21057261 Free PMC article.
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.
de Beaucoudrey L, Puel A, Filipe-Santos O, Cobat A, Ghandil P, Chrabieh M, Feinberg J, von Bernuth H, Samarina A, Jannière L, Fieschi C, Stéphan JL, Boileau C, Lyonnet S, Jondeau G, Cormier-Daire V, Le Merrer M, Hoarau C, Lebranchu Y, Lortholary O, Chandesris MO, Tron F, Gambineri E, Bianchi L, Rodriguez-Gallego C, Zitnik SE, Vasconcelos J, Guedes M, Vitor AB, Marodi L, Chapel H, Reid B, Roifman C, Nadal D, Reichenbach J, Caragol I, Garty BZ, Dogu F, Camcioglu Y, Gülle S, Sanal O, Fischer A, Abel L, Stockinger B, Picard C, Casanova JL. de Beaucoudrey L, et al. Among authors: sanal o. J Exp Med. 2008 Jul 7;205(7):1543-50. doi: 10.1084/jem.20080321. J Exp Med. 2008. PMID: 18591412 Free PMC article.
Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency.
Ouederni M, Sanal O, Ikinciogullari A, Tezcan I, Dogu F, Sologuren I, Pedraza-Sánchez S, Keser M, Tanir G, Nieuwhof C, Colino E, Kumararatne D, Levy J, Kutukculer N, Aytekin C, Herrera-Ramos E, Bhatti M, Karaca N, Barbouche R, Broides A, Goudouris E, Franco JL, Parvaneh N, Reisli I, Strickler A, Shcherbina A, Somer A, Segal A, Angel-Moreno A, Lezana-Fernandez JL, Bejaoui M, Bobadilla-Del Valle M, Kachboura S, Sentongo T, Ben-Mustapha I, Bustamante J, Picard C, Puel A, Boisson-Dupuis S, Abel L, Casanova JL, Rodríguez-Gallego C. Ouederni M, et al. Among authors: sanal o. Clin Infect Dis. 2014 Jan;58(2):204-13. doi: 10.1093/cid/cit722. Epub 2013 Nov 1. Clin Infect Dis. 2014. PMID: 24186907 Free PMC article.
IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.
van de Vosse E, Haverkamp MH, Ramirez-Alejo N, Martinez-Gallo M, Blancas-Galicia L, Metin A, Garty BZ, Sun-Tan Ç, Broides A, de Paus RA, Keskin Ö, Çağdaş D, Tezcan I, Lopez-Ruzafa E, Aróstegui JI, Levy J, Espinosa-Rosales FJ, Sanal Ö, Santos-Argumedo L, Casanova JL, Boisson-Dupuis S, van Dissel JT, Bustamante J. van de Vosse E, et al. Among authors: sanal o. Hum Mutat. 2013 Oct;34(10):1329-39. doi: 10.1002/humu.22380. Epub 2013 Aug 8. Hum Mutat. 2013. PMID: 23864330 Free PMC article. Review.
Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.
Boisson-Dupuis S, Bustamante J, El-Baghdadi J, Camcioglu Y, Parvaneh N, El Azbaoui S, Agader A, Hassani A, El Hafidi N, Mrani NA, Jouhadi Z, Ailal F, Najib J, Reisli I, Zamani A, Yosunkaya S, Gulle-Girit S, Yildiran A, Cipe FE, Torun SH, Metin A, Atikan BY, Hatipoglu N, Aydogmus C, Kilic SS, Dogu F, Karaca N, Aksu G, Kutukculer N, Keser-Emiroglu M, Somer A, Tanir G, Aytekin C, Adimi P, Mahdaviani SA, Mamishi S, Bousfiha A, Sanal O, Mansouri D, Casanova JL, Abel L. Boisson-Dupuis S, et al. Among authors: sanal o. Immunol Rev. 2015 Mar;264(1):103-20. doi: 10.1111/imr.12272. Immunol Rev. 2015. PMID: 25703555 Free PMC article. Review.
Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease.
Grant AV, Boisson-Dupuis S, Herquelot E, de Beaucoudrey L, Filipe-Santos O, Nolan DK, Feinberg J, Boland A, Al-Muhsen S, Sanal O, Camcioglu Y, Palanduz A, Kilic SS, Bustamante J, Casanova JL, Abel L. Grant AV, et al. Among authors: sanal o. J Med Genet. 2011 Aug;48(8):567-71. doi: 10.1136/jmg.2011.089128. Epub 2011 May 14. J Med Genet. 2011. PMID: 21572128 Free PMC article.
Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency.
Bogunovic D, Byun M, Durfee LA, Abhyankar A, Sanal O, Mansouri D, Salem S, Radovanovic I, Grant AV, Adimi P, Mansouri N, Okada S, Bryant VL, Kong XF, Kreins A, Velez MM, Boisson B, Khalilzadeh S, Ozcelik U, Darazam IA, Schoggins JW, Rice CM, Al-Muhsen S, Behr M, Vogt G, Puel A, Bustamante J, Gros P, Huibregtse JM, Abel L, Boisson-Dupuis S, Casanova JL. Bogunovic D, et al. Among authors: sanal o. Science. 2012 Sep 28;337(6102):1684-8. doi: 10.1126/science.1224026. Epub 2012 Aug 2. Science. 2012. PMID: 22859821 Free PMC article.
Residual type 1 immunity in patients genetically deficient for interleukin 12 receptor beta1 (IL-12Rbeta1): evidence for an IL-12Rbeta1-independent pathway of IL-12 responsiveness in human T cells.
Verhagen CE, de Boer T, Smits HH, Verreck FA, Wierenga EA, Kurimoto M, Lammas DA, Kumararatne DS, Sanal O, Kroon FP, van Dissel JT, Sinigaglia F, Ottenhoff TH. Verhagen CE, et al. Among authors: sanal o. J Exp Med. 2000 Aug 21;192(4):517-28. doi: 10.1084/jem.192.4.517. J Exp Med. 2000. PMID: 10952721 Free PMC article.
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.
211 results