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   IFNGR2base
   Variation registry for  IFNγ2-receptor deficiency


IFNGR2base mutation publications

[2008] [2005] [2004] [2000] [1998] [1996]

Search PubMed latest citations for IFNGR2 mutations

    2008

  • 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(8): 1729-37 [PubMed abstract].

    2005

  • Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
    Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de Beaucoudrey L, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, Mirsaeidi M, Khalilzadeh S, Rosenzweig S, de la Calle Martin O, Bauer TR, Puck JM, Ochs HD, Furthner D, Engelhorn C, Belohradsky B, Mansouri D, Holland SM, Schreiber RD, Abel L, Cooper DN, Soudais C, Casanova JL
    Nat Genet 2005(7): 692-700 [PubMed abstract].

    2004

  • 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(6): 4000-8 [PubMed abstract].

    2000

  • 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(1): 379-84 [PubMed abstract].

    1998

  • Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection.
    Dorman SE, Holland SM
    J Clin Invest 1998(11): 2364-9 [PubMed abstract].

    1996

  • Idiopathic disseminated bacillus Calmette-Guérin infection: a French national retrospective study.
    Casanova JL, Blanche S, Emile JF, Jouanguy E, Lamhamedi S, Altare F, Stéphan JL, Bernaudin F, Bordigoni P, Turck D, Lachaux A, Albertini M, Bourrillon A, Dommergues JP, Pocidalo MA, Le Deist F, Gaillard JL, Griscelli C, Fischer A
    Pediatrics 1996(4 Pt 1): 774-8 [PubMed abstract].