Article
In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma.
The Journal of clinical investigation - 1 May 2000
Jouanguy E, Dupuis S, Pallier A, Döffinger R, Fondanèche M C, Fieschi C, Lamhamedi-Cherradi S, Altare F, Emile J F, Lutz P, Bordigoni P, Cokugras H, Akcakaya N, Landman-Parker J, Donnadieu J, Camcioglu Y, Casanova J L
Abstract excerpt
Complete IFN-gamma receptor ligand-binding chain (IFNgammaR1) deficiency is a life-threatening autosomal recessive immune disorder. Affected children invariably die of mycobacterial infection, unless bone marrow transplantation is undertaken. Pathogenic IFNGR1 mutations identified to date include nonsense and splice mutations and frameshift deletions and insertions. All result in a premature stop codon upstream...
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