402 related articles for article (PubMed ID: 32163377)
1. 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
J Clin Invest; 2020 Jun; 130(6):3158-3171. PubMed ID: 32163377
[TBL] [Abstract][Full Text] [Related]
2. 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
Hum Mol Genet; 2018 Nov; 27(22):3919-3935. PubMed ID: 31222290
[TBL] [Abstract][Full Text] [Related]
3. Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
Kong XF; Vogt G; Itan Y; Macura-Biegun A; Szaflarska A; Kowalczyk D; Chapgier A; Abhyankar A; Furthner D; Djambas Khayat C; Okada S; Bryant VL; Bogunovic D; Kreins A; Moncada-Vélez M; Migaud M; Al-Ajaji S; Al-Muhsen S; Holland SM; Abel L; Picard C; Chaussabel D; Bustamante J; Casanova JL; Boisson-Dupuis S
Hum Mol Genet; 2013 Feb; 22(4):769-81. PubMed ID: 23161749
[TBL] [Abstract][Full Text] [Related]
4. 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
Cells; 2020 Feb; 9(2):. PubMed ID: 32093117
[TBL] [Abstract][Full Text] [Related]
5. Evaluation of interleukin-12 receptor β1 and interferon gamma receptor 1 deficiency in patients with disseminated BCG infection.
Pourakbari B; Hosseinpour Sadeghi R; Mahmoudi S; Parvaneh N; Keshavarz Valian S; Mamishi S
Allergol Immunopathol (Madr); 2019; 47(1):38-42. PubMed ID: 30268380
[TBL] [Abstract][Full Text] [Related]
6. Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.
Rosain J; Kiykim A; Michev A; Kendir-Demirkol Y; Rinchai D; Peel JN; Li H; Ocak S; Ozdemir PG; Le Voyer T; Philippot Q; Khan T; Neehus AL; Migaud M; Soudée C; Boisson-Dupuis S; Marr N; Borghesi A; Casanova JL; Bustamante J
J Clin Immunol; 2024 Feb; 44(3):62. PubMed ID: 38363432
[TBL] [Abstract][Full Text] [Related]
7. Genetic heterogeneity of Mendelian susceptibility to mycobacterial infection.
Döffinger R; Altare F; Casanova JL
Microbes Infect; 2000 Nov; 2(13):1553-7. PubMed ID: 11113374
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Partial interferon-gamma receptor deficiency and non-tuberculous mycobacterial lung disease.
Hwang JH; Koh WJ; Kim EJ; Kang EH; Suh GY; Chung MP; Kim H; Kwon OJ
Tuberculosis (Edinb); 2006 Sep; 86(5):382-5. PubMed ID: 16682253
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ.
Tsumura M; Miki M; Mizoguchi Y; Hirata O; Nishimura S; Tamaura M; Kagawa R; Hayakawa S; Kobayashi M; Okada S
J Allergy Clin Immunol; 2022 Jan; 149(1):252-261.e6. PubMed ID: 34176646
[TBL] [Abstract][Full Text] [Related]
13. IFN-gamma mediates the rejection of haematopoietic stem cells in IFN-gammaR1-deficient hosts.
Rottman M; Soudais C; Vogt G; Renia L; Emile JF; Decaluwe H; Gaillard JL; Casanova JL
PLoS Med; 2008 Jan; 5(1):e26. PubMed ID: 18232731
[TBL] [Abstract][Full Text] [Related]
14. Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients.
de Vor IC; van der Meulen PM; Bekker V; Verhard EM; Breuning MH; Harnisch E; van Tol MJ; Wieringa JW; van de Vosse E; Bredius RG
J Clin Immunol; 2016 Apr; 36(3):195-203. PubMed ID: 26931784
[TBL] [Abstract][Full Text] [Related]
15. Mendelian susceptibility to mycobacterial diseases: state of the art.
Noma K; Mizoguchi Y; Tsumura M; Okada S
Clin Microbiol Infect; 2022 Nov; 28(11):1429-1434. PubMed ID: 35283318
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases.
Al-Muhsen S; Casanova JL
J Allergy Clin Immunol; 2008 Dec; 122(6):1043-51; quiz 1052-3. PubMed ID: 19084105
[TBL] [Abstract][Full Text] [Related]
18. Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency.
Kilic SS; van Wengen A; de Paus RA; Celebi S; Meziane B; Hafizoglu D; van Dissel JT; van de Vosse E
J Infect; 2012 Dec; 65(6):568-72. PubMed ID: 22902943
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Mendelian susceptibility to mycobacterial diseases: State of the puzzle.
Errami A; Bousfiha AA
Qatar Med J; 2023; 2023(2):25. PubMed ID: 38025345
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]