In a novel form of IFN-γ receptor 1 deficiency, cell surface receptors fail to bind IFN-γ

Complete IFN-γ receptor ligand-binding chain (IFNγR1) 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 a...

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Bibliografische gegevens
Hoofdauteurs: Jouanguy, Emmanuelle, Dupuis, Stéphanie, Pallier, Annaïck, Döffinger, Rainer, Fondanèche, Marie-Claude, Fieschi, Claire, Lamhamedi-Cherradi, Salma, Altare, Frédéric, Emile, Jean-François, Lutz, Patrick, Bordigoni, Pierre, Cokugras, Haluk, Akcakaya, Necla, Landman-Parker, Judith, Donnadieu, Jean, Camcioglu, Yildiz, Casanova, Jean-Laurent
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Clinical Investigation 2000
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC315467/
https://ncbi.nlm.nih.gov/pubmed/10811850
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