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   IL12RB1base
   Variation registry for  Interleukin-12 receptor β1 deficiency


IL12RB1base mutation publications

[2010] [2009] [2006] [2004] [2003] [2002] [2001] [1998]

Search PubMed latest citations for IL12RB1 mutations

    2010

  • Bacille Calmette-Guérin infection and disease with fatal outcome associated with a point mutation in the interleukin-12/interleukin-23 receptor beta-1 chain in two Mexican families.
    Pedraza-Sánchez S, Herrera-Barrios MT, Aldana-Vergara R, Neumann-Ordoñez M, González-Hernández Y, Sada-Díaz E, de Beaucoudrey L, Casanova JL, Torres-Rojas M
    Int J Infect Dis 2010(): e256-60 [PubMed abstract].

  • Mycobacterium bovis BCG-itis and cervical lymphadenitis due to Salmonella enteritidis in a patient with complete interleukin-12/-23 receptor beta1 deficiency.
    van de Vosse E, Ottenhoff TH, de Paus RA, Verhard EM, de Boer T, van Dissel JT, Kuijpers TW
    Infection 2010(2): 128-30 [PubMed abstract].

    2009

  • Interleukin-12/-23 receptor beta 1 deficiency in an infant with draining BCG lymphadenitis.
    Asilsoy S, Bilgili G, Turul T, Dizdarer C, Kalkan S, Yasli H, Can D, Genel F, Sanal O
    Pediatr Int 2009(2): 310-2 [PubMed abstract].

  • 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].

    2006

  • Distribution, infections, treatments and molecular analysis in a large cohort of patients with primary immunodeficiency diseases (PIDs) in Taiwan.
    Lee WI, Jaing TH, Hsieh MY, Kuo ML, Lin SJ, Huang JL
    J Clin Immunol 2006(3): 274-83 [PubMed abstract].

  • Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features.
    Tanir G, Dogu F, Tuygun N, Ikinciogullari A, Aytekin C, Aydemir C, Yuksek M, Boduroglu EC, de Beaucoudrey L, Fieschi C, Feinberg J, Casanova JL, Babacan E
    Eur J Pediatr 2006(6): 415-7 [PubMed abstract].

  • Presentation of interleukin-12/-23 receptor beta1 deficiency with various clinical symptoms of Salmonella infections.
    Sanal O, Turul T, De Boer T, Van de Vosse E, Yalcin I, Tezcan I, Sun C, Memis L, Ottenhoff TH, Ersoy F
    J Clin Immunol 2006(1): 1-6 [PubMed abstract].

    2004

  • A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors.
    Fieschi C, Bosticardo M, de Beaucoudrey L, Boisson-Dupuis S, Feinberg J, Santos OF, Bustamante J, Levy J, Candotti F, Casanova JL
    Blood 2004(7): 2095-101 [PubMed abstract].

    2003

  • Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor beta1 deficient patients and evidence for the existence of partial IL-12 receptor beta1 deficiency.
    Lichtenauer-Kaligis EG, de Boer T, Verreck FA, van Voorden S, Hoeve MA, van de Vosse E, Ersoy F, Tezcan I, van Dissel JT, Sanal O, Ottenhoff TH
    Eur J Immunol 2003(1): 59-69 [PubMed abstract].

  • Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.
    Fieschi C, Dupuis S, Catherinot E, Feinberg J, Bustamante J, Breiman A, Altare F, Baretto R, Le Deist F, Kayal S, Koch H, Richter D, Brezina M, Aksu G, Wood P, Al-Jumaah S, Raspall M, Da Silva Duarte AJ, Tuerlinckx D, Virelizier JL, Fischer A, Enright A, Bernhöft J, Cleary AM, Vermylen C, Rodriguez-Gallego C, Davies G, Blütters-Sawatzki R, Siegrist CA, Ehlayel MS, Novelli V, Haas WH, Levy J, Freihorst J, Al-Hajjar S, Nadal D, De Moraes Vasconcelos D, Jeppsson O, Kutukculer N, Frecerova K, Caragol I, Lammas D, Kumararatne DS, Abel L, Casanova JL
    J Exp Med 2003(4): 527-35 [PubMed abstract].

  • Impaired accumulation and function of memory CD4 T cells in human IL-12 receptor beta 1 deficiency.
    Cleary AM, Tu W, Enright A, Giffon T, Dewaal-Malefyt R, Gutierrez K, Lewis DB
    J Immunol 2003(1): 597-603 [PubMed abstract].

    2002

  • Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille calmette-guérin infection.
    Elloumi-Zghal H, Barbouche MR, Chemli J, Béjaoui M, Harbi A, Snoussi N, Abdelhak S, Dellagi K
    J Infect Dis 2002(10): 1468-75 [PubMed abstract].

    2001

  • Mycobacterium fortuitum-chelonae complex infection in a child with complete interleukin-12 receptor beta 1 deficiency.
    Aksu G, Tirpan C, CavuÅŸoÄŸlu C, Soydan S, Altare F, Casanova JL, Kutukculer N
    Pediatr Infect Dis J 2001(5): 551-3 [PubMed abstract].

  • Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis.
    Altare F, Ensser A, Breiman A, Reichenbach J, Baghdadi JE, Fischer A, Emile JF, Gaillard JL, Meinl E, Casanova JL
    J Infect Dis 2001(2): 231-6 [PubMed abstract].

  • Missense mutation of the interleukin-12 receptor beta1 chain-encoding gene is associated with impaired immunity against Mycobacterium avium complex infection.
    Sakai T, Matsuoka M, Aoki M, Nosaka K, Mitsuya H
    Blood 2001(9): 2688-94 [PubMed abstract].

    1998

  • Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency.
    Altare F, Durandy A, Lammas D, Emile JF, Lamhamedi S, Le Deist F, Drysdale P, Jouanguy E, Döffinger R, Bernaudin F, Jeppsson O, Gollob JA, Meinl E, Segal AW, Fischer A, Kumararatne D, Casanova JL
    Science 1998(5368): 1432-5 [PubMed abstract].

  • Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients.
    de Jong R, Altare F, Haagen IA, Elferink DG, Boer T, van Breda Vriesman PJ, Kabel PJ, Draaisma JM, van Dissel JT, Kroon FP, Casanova JL, Ottenhoff TH
    Science 1998(5368): 1435-8 [PubMed abstract].