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Page 1
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Abou Tayoun A, Aiuti A, Alavi Darazam I, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Metin Akcan O, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogense… See abstract for full author list ➔ Matuozzo D, et al. Among authors: mansouri d. Genome Med. 2023 Apr 5;15(1):22. doi: 10.1186/s13073-023-01173-8. Genome Med. 2023. PMID: 37020259 Free PMC article.
Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection.
Mansouri D, Adimi P, Mirsaeidi M, Mansouri N, Khalilzadeh S, Masjedi MR, Adimi P, Tabarsi P, Naderi M, Filipe-Santos O, Vogt G, de Beaucoudrey L, Bustamante J, Chapgier A, Feinberg J, Velayati AA, Casanova JL. Mansouri D, et al. Among authors: mansouri n. Eur J Pediatr. 2005 Dec;164(12):753-7. doi: 10.1007/s00431-005-1689-9. Epub 2005 Aug 10. Eur J Pediatr. 2005. PMID: 16091917
A young woman with diffuse skin lesions.
Mansouri N, Kamali M, Marjani M, Tabarsi P, Sajadi MM, Mansouri D. Mansouri N, et al. Among authors: mansouri d. Clin Infect Dis. 2010 Jul 15;51(2):195-6; anwer 248-9. doi: 10.1086/653603. Clin Infect Dis. 2010. PMID: 20560733 No abstract available.
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, K… See abstract for full author list ➔ de Beaucoudrey L, et al. Among authors: mansouri d. Medicine (Baltimore). 2010 Nov;89(6):381-402. doi: 10.1097/MD.0b013e3181fdd832. Medicine (Baltimore). 2010. PMID: 21057261 Free PMC article.
Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency.
Tabarsi P, Marjani M, Mansouri N, Farnia P, Boisson-Dupuis S, Bustamante J, Abel L, Adimi P, Casanova JL, Mansouri D. Tabarsi P, et al. Among authors: mansouri n, mansouri d. J Clin Immunol. 2011 Aug;31(4):537-9. doi: 10.1007/s10875-011-9523-9. Epub 2011 Apr 13. J Clin Immunol. 2011. PMID: 21487897
IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey.
Boisson-Dupuis S, El Baghdadi J, Parvaneh N, Bousfiha A, Bustamante J, Feinberg J, Samarina A, Grant AV, Janniere L, El Hafidi N, Hassani A, Nolan D, Najib J, Camcioglu Y, Hatipoglu N, Aydogmus C, Tanir G, Aytekin C, Keser M, Somer A, Aksu G, Kutukculer N, Mansouri D, Mahdaviani A, Mamishi S, Alcais A, Abel L, Casanova JL. Boisson-Dupuis S, et al. Among authors: mansouri d. PLoS One. 2011 Apr 13;6(4):e18524. doi: 10.1371/journal.pone.0018524. PLoS One. 2011. PMID: 21533230 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: mansouri n, mansouri d. Science. 2012 Sep 28;337(6102):1684-8. doi: 10.1126/science.1224026. Epub 2012 Aug 2. Science. 2012. PMID: 22859821 Free PMC article.
225 results