302 related articles for article (PubMed ID: 23161749)
21. [Mendelian predisposition to mycobacterial infections in humans].
Casanova JL
J Soc Biol; 2000; 194(1):25-8. PubMed ID: 11107546
[TBL] [Abstract][Full Text] [Related]
22. Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.
Mahdaviani SA; Mansouri D; Jamee M; Zaki-Dizaji M; Aghdam KR; Mortaz E; Khorasanizadeh M; Eskian M; Movahedi M; Ghaffaripour H; Baghaie N; Hassanzad M; Chavoshzadeh Z; Mansouri M; Mesdaghi M; Ghaini M; Noori F; Eskandarzadeh S; Kahkooi S; Poorabdolah M; Tabarsi P; Moniri A; Farnia P; Karimi A; Boisson-Dupuis S; Rezaei N; Marjani M; Casanova JL; Bustamante J; Velayati AA
J Clin Immunol; 2020 Aug; 40(6):872-882. PubMed ID: 32602053
[TBL] [Abstract][Full Text] [Related]
23. A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.
Kong XF; Vogt G; Chapgier A; Lamaze C; Bustamante J; Prando C; Fortin A; Puel A; Feinberg J; Zhang XX; Gonnord P; Pihkala-Saarinen UM; Arola M; Moilanen P; Abel L; Korppi M; Boisson-Dupuis S; Casanova JL
Hum Mol Genet; 2010 Feb; 19(3):434-44. PubMed ID: 19880857
[TBL] [Abstract][Full Text] [Related]
24. 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
Immunol Cell Biol; 2019 Apr; 97(4):360-367. PubMed ID: 30264912
[TBL] [Abstract][Full Text] [Related]
25. Clinical and host genetic characteristics of Mendelian susceptibility to mycobacterial diseases in Japan.
Hoshina T; Takada H; Sasaki-Mihara Y; Kusuhara K; Ohshima K; Okada S; Kobayashi M; Ohara O; Hara T
J Clin Immunol; 2011 Jun; 31(3):309-14. PubMed ID: 21221749
[TBL] [Abstract][Full Text] [Related]
26. Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.
Bustamante J; Boisson-Dupuis S; Abel L; Casanova JL
Semin Immunol; 2014 Dec; 26(6):454-70. PubMed ID: 25453225
[TBL] [Abstract][Full Text] [Related]
27. A novel STAT1 loss-of-function mutation associated with Mendelian susceptibility to mycobacterial disease.
Ye F; Zhang W; Dong J; Peng M; Fan C; Deng W; Zhang H; Yang L
Front Cell Infect Microbiol; 2022; 12():1002140. PubMed ID: 36339330
[TBL] [Abstract][Full Text] [Related]
28. 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
J Clin Immunol; 2021 Apr; 41(3):639-657. PubMed ID: 33417088
[TBL] [Abstract][Full Text] [Related]
29. Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.
Philippot Q; Ogishi M; Bohlen J; Puchan J; Arias AA; Nguyen T; Martin-Fernandez M; Conil C; Rinchai D; Momenilandi M; Mahdaviani SA; Keramatipour M; Rosain J; Yang R; Khan T; Neehus AL; Materna M; Han JE; Peel J; Mele F; Weisshaar M; Jovic S; Bastard P; Lévy R; Le Voyer T; Zhang P; Maglorius Renkilaraj MRL; Arango-Franco CA; Pelham S; Seeleuthner Y; Pochon M; Ata MMA; Al Ali F; Migaud M; Soudée C; Kochetkov T; Molitor A; Carapito R; Bahram S; Boisson B; Fieschi C; Mansouri D; Marr N; Okada S; Shahrooei M; Parvaneh N; Chavoshzadeh Z; Cobat A; Bogunovic D; Abel L; Tangye SG; Ma CS; Béziat V; Sallusto F; Boisson-Dupuis S; Bustamante J; Casanova JL; Puel A
Sci Immunol; 2023 Feb; 8(80):eabq5204. PubMed ID: 36763636
[TBL] [Abstract][Full Text] [Related]
30. Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis.
Hirata O; Okada S; Tsumura M; Kagawa R; Miki M; Kawaguchi H; Nakamura K; Boisson-Dupuis S; Casanova JL; Takihara Y; Kobayashi M
Haematologica; 2013 Oct; 98(10):1641-9. PubMed ID: 23585529
[TBL] [Abstract][Full Text] [Related]
31. Gamma interferon is dispensable for neopterin production in vivo.
Sghiri R; Feinberg J; Thabet F; Dellagi K; Boukadida J; Ben Abdelaziz A; Casanova JL; Barbouche MR
Clin Diagn Lab Immunol; 2005 Dec; 12(12):1437-41. PubMed ID: 16339068
[TBL] [Abstract][Full Text] [Related]
32. Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.
Sologuren I; Boisson-Dupuis S; Pestano J; Vincent QB; Fernández-Pérez L; Chapgier A; Cárdenes M; Feinberg J; García-Laorden MI; Picard C; Santiago E; Kong X; Jannière L; Colino E; Herrera-Ramos E; Francés A; Navarrete C; Blanche S; Faria E; Remiszewski P; Cordeiro A; Freeman A; Holland S; Abarca K; Valerón-Lemaur M; Gonçalo-Marques J; Silveira L; García-Castellano JM; Caminero J; Pérez-Arellano JL; Bustamante J; Abel L; Casanova JL; Rodríguez-Gallego C
Hum Mol Genet; 2011 Apr; 20(8):1509-23. PubMed ID: 21266457
[TBL] [Abstract][Full Text] [Related]
33. Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.
Dorman SE; Picard C; Lammas D; Heyne K; van Dissel JT; Baretto R; Rosenzweig SD; Newport M; Levin M; Roesler J; Kumararatne D; Casanova JL; Holland SM
Lancet; 2004 Dec 11-17; 364(9451):2113-21. PubMed ID: 15589309
[TBL] [Abstract][Full Text] [Related]
34. Intact IFN-γR1 expression and function distinguishes Langerhans cell histiocytosis from mendelian susceptibility to mycobacterial disease.
Quispel WT; Stegehuis-Kamp JA; Santos SJ; van Wengen A; Dompeling E; Egeler RM; van de Vosse E; van Halteren AG
J Clin Immunol; 2014 Jan; 34(1):84-93. PubMed ID: 24254535
[TBL] [Abstract][Full Text] [Related]
35. Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guérin and Mycobacterium abscessus infection.
Döffinger R; Jouanguy E; Dupuis S; Fondanèche MC; Stephan JL; Emile JF; Lamhamedi-Cherradi S; Altare F; Pallier A; Barcenas-Morales G; Meinl E; Krause C; Pestka S; Schreiber RD; Novelli F; Casanova JL
J Infect Dis; 2000 Jan; 181(1):379-84. PubMed ID: 10608793
[TBL] [Abstract][Full Text] [Related]
36. [Analysis of IFN-γR1 (CD119) and IL-12Rβ1 (CD212) Deficiency by Flow Cytometry].
Gelmez MY; Köksalan K; Çınar S; Hatipoğlu N; Coşkuner T; Topkarcı Z; Hançerli Törün S; Demirbuğa A; Yücel E; Kıykım A; Çokuğraş HC; Gemici-Karaaslan HB; Kendir-Demirkol Y; Deniz G
Mikrobiyol Bul; 2023 Jan; 57(1):83-96. PubMed ID: 36636848
[TBL] [Abstract][Full Text] [Related]
37. Mendelian susceptibility to mycobacterial disease: recent discoveries.
Bustamante J
Hum Genet; 2020 Jun; 139(6-7):993-1000. PubMed ID: 32025907
[TBL] [Abstract][Full Text] [Related]
38. Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.
Prando C; Samarina A; Bustamante J; Boisson-Dupuis S; Cobat A; Picard C; AlSum Z; Al-Jumaah S; Al-Hajjar S; Frayha H; Al-Mousa H; Ben-Mustapha I; Adimi P; Feinberg J; de Suremain M; Jannière L; Filipe-Santos O; Mansouri N; Stephan JL; Nallusamy R; Kumararatne DS; Bloorsaz MR; Ben-Ali M; Elloumi-Zghal H; Chemli J; Bouguila J; Bejaoui M; Alaki E; AlFawaz TS; Al Idrissi E; ElGhazali G; Pollard AJ; Murugasu B; Wah Lee B; Halwani R; Al-Zahrani M; Al Shehri MA; Al-Zahrani M; Bin-Hussain I; Mahdaviani SA; Parvaneh N; Abel L; Mansouri D; Barbouche R; Al-Muhsen S; Casanova JL
Medicine (Baltimore); 2013 Mar; 92(2):109-122. PubMed ID: 23429356
[TBL] [Abstract][Full Text] [Related]
39. IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database.
van de Vosse E; van Dissel JT
Hum Mutat; 2017 Oct; 38(10):1286-1296. PubMed ID: 28744922
[TBL] [Abstract][Full Text] [Related]
40. Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.
Ono R; Tsumura M; Shima S; Matsuda Y; Gotoh K; Miyata Y; Yoto Y; Tomomasa D; Utsumi T; Ohnishi H; Kato Z; Ishiwada N; Ishikawa A; Wada T; Uhara H; Nishikomori R; Hasegawa D; Okada S; Kanegane H
J Clin Immunol; 2023 Feb; 43(2):466-478. PubMed ID: 36336768
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
