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- databases for immunodeficiency-causing variations

   IL12Bbase
   Variation registry for  Interleukin-12 (IL12) p40 deficiency


IL12Bbase mutation publications

[2002] [1998]

Search PubMed latest citations for IL12B mutations

    2002

  • Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.
    Picard C, Fieschi C, Altare F, Al-Jumaah S, Al-Hajjar S, Feinberg J, Dupuis S, Soudais C, Al-Mohsen IZ, Génin E, Lammas D, Kumararatne DS, Leclerc T, Rafii A, Frayha H, Murugasu B, Wah LB, Sinniah R, Loubser M, Okamoto E, Al-Ghonaium A, Tufenkeji H, Abel L, Casanova JL
    Am J Hum Genet 2002(2): 336-48 [PubMed abstract].

  • 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].

    1998

  • Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection.
    Altare F, Lammas D, Revy P, Jouanguy E, Döffinger R, Lamhamedi S, Drysdale P, Scheel-Toellner D, Girdlestone J, Darbyshire P, Wadhwa M, Dockrell H, Salmon M, Fischer A, Durandy A, Casanova JL, Kumararatne DS
    J Clin Invest 1998(12): 2035-40 [PubMed abstract].