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   IFNGR1base
   Variation registry for  IFNγ1-receptor deficiency


IFNGR1base mutation publications

[2009] [2007] [2003] [2002] [2001] [2000] [1999] [1998] [1997] [1996] [1995] [1991] [ ]

Search PubMed latest citations for IFNGR1 mutations

    2009

  • Chinese patients with defective IL-12/23-interferon-gamma circuit in Taiwan: partial dominant interferon-gamma receptor 1 mutation presenting as cutaneous granuloma and IL-12 receptor beta1 mutation as pneumatocele.
    Lee WI, Huang JL, Lin TY, Hsueh C, Wong AM, Hsieh MY, Chiu CH, Jaing TH
    J Clin Immunol 2009(2): 238-45 [PubMed abstract].

    2007

  • Two patients with complete defects in interferon gamma receptor-dependent signaling.
    Noordzij JG, Hartwig NG, Verreck FA, De Bruin-Versteeg S, De Boer T, Van Dissel JT, De Groot R, Ottenhoff TH, Van Dongen JJ
    J Clin Immunol 2007(5): 490-6 [PubMed abstract].

  • The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction.
    Okada S, Ishikawa N, Shirao K, Kawaguchi H, Tsumura M, Ohno Y, Yasunaga S, Ohtsubo M, Takihara Y, Kobayashi M
    J Med Genet 2007(8): 485-91 [PubMed abstract].

    2003

  • Disseminated Mycobacterium peregrinum infection in a child with complete interferon-gamma receptor-1 deficiency.
    Koscielniak E, de Boer T, Dupuis S, Naumann L, Casanova JL, Ottenhoff TH
    Pediatr Infect Dis J 2003(4): 378-80 [PubMed abstract].

  • A novel single-nucleotide substitution, Leu 467 Pro, in the interferon-gamma receptor 1 gene associated with allergic diseases.
    Aoki M, Matsui E, Kaneko H, Inoue R, Fukao T, Watanabe M, Teramoto T, Kato Z, Suzuki K, Suzuki Y, Kasahara K, Kondo N
    Int J Mol Med 2003(2): 185-91 [PubMed abstract].

    2002

  • Fever and leg pain in a 42-month-old.
    Waibel KH, Regis DP, Uzel G, Rosenzweig SD, Holland SM
    Ann Allergy Asthma Immunol 2002(3): 239-43 [PubMed abstract].

  • Genetic basis of patients with bacille Calmette-Guérin osteomyelitis in Japan: identification of dominant partial interferon-gamma receptor 1 deficiency as a predominant type.
    Sasaki Y, Nomura A, Kusuhara K, Takada H, Ahmed S, Obinata K, Hamada K, Okimoto Y, Hara T
    J Infect Dis 2002(5): 706-9 [PubMed abstract].

  • 561del4 defines a novel small deletion hotspot in the interferon-gamma receptor 1 chain.
    Rosenzweig S, Dorman SE, Roesler J, Palacios J, Zelazko M, Holland SM
    Clin Immunol 2002(1): 25-7 [PubMed abstract].

    2001

  • Multifocal osteomyelitis caused by nontuberculous mycobacteria in patients with a genetic defect of the interferon-gamma receptor.
    Arend SM, Janssen R, Gosen JJ, Waanders H, de Boer T, Ottenhoff TH, van Dissel JT
    Neth J Med 2001(3): 140-51 [PubMed abstract].

  • A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency.
    Allende LM, López-Goyanes A, Paz-Artal E, Corell A, García-Pérez MA, Varela P, Scarpellini A, Negreira S, Palenque E, Arnaiz-Villena A
    Clin Diagn Lab Immunol 2001(1): 133-7 [PubMed abstract].

  • Recurrent Mycobacterium avium osteomyelitis associated with a novel dominant interferon gamma receptor mutation.
    Villella A, Picard C, Jouanguy E, Dupuis S, Popko S, Abughali N, Meyerson H, Casanova JL, Hostoffer RW
    Pediatrics 2001(4): E47 [PubMed abstract].

    2000

  • Interferon-gamma and interleukin-12 pathway defects and human disease.
    Dorman SE, Holland SM
    Cytokine Growth Factor Rev 2000(4): 321-33 [PubMed abstract].

  • In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma.
    Jouanguy E, Dupuis S, Pallier A, Döffinger R, Fondanèche MC, Fieschi C, Lamhamedi-Cherradi S, Altare F, Emile JF, Lutz P, Bordigoni P, Cokugras H, Akcakaya N, Landman-Parker J, Donnadieu J, Camcioglu Y, Casanova JL
    J Clin Invest 2000(10): 1429-36 [PubMed abstract].

    1999

  • Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options.
    Roesler J, Kofink B, Wendisch J, Heyden S, Paul D, Friedrich W, Casanova JL, Leupold W, Gahr M, Rösen-Wolff A
    Exp Hematol 1999(9): 1368-74 [PubMed abstract].

  • A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.
    Jouanguy E, Lamhamedi-Cherradi S, Lammas D, Dorman SE, Fondanèche MC, Dupuis S, Döffinger R, Altare F, Girdlestone J, Emile JF, Ducoulombier H, Edgar D, Clarke J, Oxelius VA, Brai M, Novelli V, Heyne K, Fischer A, Holland SM, Kumararatne DS, Schreiber RD, Casanova JL
    Nat Genet 1999(4): 370-8 [PubMed abstract].

    1998

  • A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child.
    Altare F, Jouanguy E, Lamhamedi-Cherradi S, Fondanéche MC, Fizame C, Ribiérre F, Merlin G, Dembic Z, Schreiber R, Lisowska-Grospierre B, Fischer A, Seboun E, Casanova JL
    Am J Hum Genet 1998(3): 723-6 [PubMed abstract].

    1997

  • Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency.
    Pierre-Audigier C, Jouanguy E, Lamhamedi S, Altare F, Rauzier J, Vincent V, Canioni D, Emile JF, Fischer A, Blanche S, Gaillard JL, Casanova JL
    Clin Infect Dis 1997(5): 982-4 [PubMed abstract].

  • Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis.
    Jouanguy E, Lamhamedi-Cherradi S, Altare F, Fondanèche MC, Tuerlinckx D, Blanche S, Emile JF, Gaillard JL, Schreiber R, Levin M, Fischer A, Hivroz C, Casanova JL
    J Clin Invest 1997(11): 2658-64 [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].

  • A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection.
    Newport MJ, Huxley CM, Huston S, Hawrylowicz CM, Oostra BA, Williamson R, Levin M
    N Engl J Med 1996(26): 1941-9 [PubMed abstract].

  • Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection.
    Jouanguy E, Altare F, Lamhamedi S, Revy P, Emile JF, Newport M, Levin M, Blanche S, Seboun E, Fischer A, Casanova JL
    N Engl J Med 1996(26): 1956-61 [PubMed abstract].

    1995

  • Evidence for exclusion of a mutation in NRAMP as the cause of familial disseminated atypical mycobacterial infection in a Maltese kindred.
    Newport M, Levin M, Blackwell J, Shaw MA, Williamson R, Huxley C
    J Med Genet 1995(11): 904-6 [PubMed abstract].

  • Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene?
    Levin M, Newport MJ, D'Souza S, Kalabalikis P, Brown IN, Lenicker HM, Agius PV, Davies EG, Thrasher A, Klein N
    Lancet 1995(8942): 79-83 [PubMed abstract].

    1991

  • Altered protein kinase C activity in biopsies of human colonic adenomas and carcinomas.
    Kopp R, Noelke B, Sauter G, Schildberg FW, Paumgartner G, Pfeiffer A
    Cancer Res 1991(1): 205-10 [PubMed abstract].

  • Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.
    Dorman SE, Picard C, Lammas D, Heyne K, van Dissel JT, Baretto R, Rosenzweig SD, Newport M, Levin M, Roesler J, Kumararatne D, Casanova JL, Holland SM
    Lancet (9451): 2113-21 [PubMed abstract].