302 related articles for article (PubMed ID: 23161749)
1. 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]
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. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Impact of molecular diagnosis on treating Mendelian susceptibility to mycobacterial diseases.
Wang LH; Yen CL; Chang TC; Liu CC; Shieh CC
J Microbiol Immunol Infect; 2012 Dec; 45(6):411-7. PubMed ID: 23036270
[TBL] [Abstract][Full Text] [Related]
10. Novel STAT1 alleles in a patient with impaired resistance to mycobacteria.
Kristensen IA; Veirum JE; Møller BK; Christiansen M
J Clin Immunol; 2011 Apr; 31(2):265-71. PubMed ID: 21057861
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A Novel Splice Site Mutation in
Bandari AK; Muthusamy B; Bhat S; Govindaraj P; Rajagopalan P; Dalvi A; Shankar S; Raja R; Reddy KS; Madkaikar M; Pandey A
Front Immunol; 2019; 10():1964. PubMed ID: 31497017
[TBL] [Abstract][Full Text] [Related]
13. Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome.
Kong XF; Worley L; Rinchai D; Bondet V; Jithesh PV; Goulet M; Nonnotte E; Rebillat AS; Conte M; Mircher C; Gürtler N; Liu L; Migaud M; Elanbari M; Habib T; Ma CS; Bustamante J; Abel L; Ravel A; Lyonnet S; Munnich A; Duffy D; Chaussabel D; Casanova JL; Tangye SG; Boisson-Dupuis S; Puel A
J Clin Immunol; 2020 Aug; 40(6):807-819. PubMed ID: 32572726
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.
Sarrafzadeh SA; Nourizadeh M; Mahloojirad M; Fazlollahi MR; Shokouhi Shoormasti R; Badalzadeh M; Deswarte C; Casanova JL; Pourpak Z; Bustamante J; Moin M
J Clin Immunol; 2019 Apr; 39(3):287-297. PubMed ID: 30715640
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Clinical and immunological profile of children with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) from an Indian tertiary care hospital.
Indumathi CK; Bustamante J
Indian J Tuberc; 2021 Apr; 68(2):292-297. PubMed ID: 33845970
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
