The novel IFNGR1 mutation 774del4 produces a truncated form of interferon‐γ receptor 1 and has a dominant‐negative effect on interferon‐γ signal transduction

BACKGROUND: Patients with interferon‐γ receptor 1 (IFNγR1) deficiency show selective susceptibility to intracellular pathogens such as mycobacteria. IFNγR1 deficiency is an inherited immunodeficiency disorder, which can be either recessive or dominant. Dominant forms of IFNγR1 deficiency are known t...

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Autors principals: Okada, Satoshi, Ishikawa, Nobutsune, Shirao, Ken'ichiro, Kawaguchi, Hiroshi, Tsumura, Miyuki, Ohno, Yoshinori, Yasunaga, Shin'ichiro, Ohtsubo, Motoaki, Takihara, Yoshihiro, Kobayashi, Masao
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2007
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597923/
https://ncbi.nlm.nih.gov/pubmed/17513528
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.049635
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