215 related articles for article (PubMed ID: 23963039)
1. Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.
Moncada-Vélez M; Martinez-Barricarte R; Bogunovic D; Kong XF; Blancas-Galicia L; Tirpan C; Aksu G; Vincent QB; Boisson B; Itan Y; Ramírez-Alejo N; Okada S; Kreins AY; Bryant VL; Franco JL; Migaud M; Espinosa-Padilla S; Yamazaki-Nakashimada M; Espinosa-Rosales F; Kutukculer N; Abel L; Bustamante J; Vogt G; Casanova JL; Boisson-Dupuis S
Blood; 2013 Oct; 122(14):2390-401. PubMed ID: 23963039
[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. Effect of amino acid substitutions in the human IFN-γR2 on IFN-γ responsiveness.
de Paus RA; Kilic SS; van Dissel JT; van de Vosse E
Genes Immun; 2011 Mar; 12(2):136-44. PubMed ID: 21248774
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.
Vogt G; Bustamante J; Chapgier A; Feinberg J; Boisson Dupuis S; Picard C; Mahlaoui N; Gineau L; Alcaïs A; Lamaze C; Puck JM; de Saint Basile G; Khayat CD; Mikhael R; Casanova JL
J Exp Med; 2008 Aug; 205(8):1729-37. PubMed ID: 18625743
[TBL] [Abstract][Full Text] [Related]
7. Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.
Martínez-Barricarte R; Megged O; Stepensky P; Casimir P; Moncada-Velez M; Averbuch D; Assous MV; Abuzaitoun O; Kong XF; Pedergnana V; Deswarte C; Migaud M; Rose-John S; Itan Y; Boisson B; Belkadi A; Conti F; Abel L; Vogt G; Boisson-Dupuis S; Casanova JL; Bustamante J
J Clin Immunol; 2014 Nov; 34(8):904-9. PubMed ID: 25135595
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Glycosylation-Dependent IFN-γR Partitioning in Lipid and Actin Nanodomains Is Critical for JAK Activation.
Blouin CM; Hamon Y; Gonnord P; Boularan C; Kagan J; Viaris de Lesegno C; Ruez R; Mailfert S; Bertaux N; Loew D; Wunder C; Johannes L; Vogt G; Contreras FX; Marguet D; Casanova JL; Galès C; He HT; Lamaze C
Cell; 2016 Aug; 166(4):920-934. PubMed ID: 27499022
[TBL] [Abstract][Full Text] [Related]
10. A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states.
Rosenzweig SD; Dorman SE; Uzel G; Shaw S; Scurlock A; Brown MR; Buckley RH; Holland SM
J Immunol; 2004 Sep; 173(6):4000-8. PubMed ID: 15356149
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Characterization of a dipeptide motif regulating IFN-gamma receptor 2 plasma membrane accumulation and IFN-gamma responsiveness.
Rosenzweig SD; Schwartz OM; Brown MR; Leto TL; Holland SM
J Immunol; 2004 Sep; 173(6):3991-9. PubMed ID: 15356148
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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]
19. Phagocyte nicotinamide adenine dinucleotide phosphate oxidase activity in patients with inherited IFN-γR1 or IFN-γR2 deficiency.
Conti F; Aragão Filho WC; Prando C; Deswarte C; Hubeau M; Newburger PE; Casanova JL; Bustamante J; Condino-Neto A
J Allergy Clin Immunol; 2015 May; 135(5):1393-5.e1. PubMed ID: 25542884
[No Abstract] [Full Text] [Related]
20. IFN-γ and its receptors in a reptile reveal the evolutionary conservation of type II IFNs in vertebrates.
Chen SN; Huang B; Zhang XW; Li Y; Zhao LJ; Li N; Gao Q; Nie P
Dev Comp Immunol; 2013 Dec; 41(4):587-96. PubMed ID: 23850722
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]