- databases for immunodeficiency-causing mutations

   IRAK4base
   Mutation registry for  IRAK4 deficiency


IRAK4base mutation publications

[2009] [2007] [2006] [2005] [2004] [2003] [1997]

Search PubMed latest citations for IRAK4 mutations

    2009

  • Mutation analysis in primary immunodeficiency diseases: case studies.
    Hsu AP, Fleisher TA, Niemela JE
    Curr Opin Allergy Clin Immunol 2009(6): 517-24 [PubMed abstract].

    2007

  • TLR9 activation induces normal neutrophil responses in a child with IRAK-4 deficiency: involvement of the direct PI3K pathway.
    Hoarau C, Gérard B, Lescanne E, Henry D, François S, Lacapère JJ, El Benna J, Dang PM, Grandchamp B, Lebranchu Y, Gougerot-Pocidalo MA, Elbim C
    J Immunol 2007(7): 4754-65 [PubMed abstract].

  • Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity.
    Ku CL, von Bernuth H, Picard C, Zhang SY, Chang HH, Yang K, Chrabieh M, Issekutz AC, Cunningham CK, Gallin J, Holland SM, Roifman C, Ehl S, Smart J, Tang M, Barrat FJ, Levy O, McDonald D, Day-Good NK, Miller R, Takada H, Hara T, Al-Hajjar S, Al-Ghonaium A, Speert D, Sanlaville D, Li X, Geissmann F, Vivier E, Maródi L, Garty BZ, Chapel H, Rodriguez-Gallego C, Bossuyt X, Abel L, Puel A, Casanova JL
    J Exp Med 2007(10): 2407-22 [PubMed abstract].

  • Cellular and humoral aberrations in a kindred with IL-1 receptor-associated kinase 4 deficiency.
    Lavine E, Somech R, Zhang JY, Puel A, Bossuyt X, Picard C, Casanova JL, Roifman CM
    J Allergy Clin Immunol 2007(4): 948-50 [PubMed abstract].

    2006

  • Autosomal recessive interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives.
    Cardenes M, von Bernuth H, García-Saavedra A, Santiago E, Puel A, Ku CL, Emile JF, Picard C, Casanova JL, Colino E, Bordes A, Garfia A, Rodríguez-Gallego C
    J Pediatr 2006(4): 549-51 [PubMed abstract].

  • Delayed separation of the umbilical cord in two siblings with Interleukin-1 receptor-associated kinase 4 deficiency: rapid screening by flow cytometer.
    Takada H, Yoshikawa H, Imaizumi M, Kitamura T, Takeyama J, Kumaki S, Nomura A, Hara T
    J Pediatr 2006(4): 546-8 [PubMed abstract].

    2005

  • Shigella sonnei meningitis due to interleukin-1 receptor-associated kinase-4 deficiency: first association with a primary immune deficiency.
    Chapel H, Puel A, von Bernuth H, Picard C, Casanova JL
    Clin Infect Dis 2005(9): 1227-31 [PubMed abstract].

    2004

  • Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor-associated kinase 4.
    Enders A, Pannicke U, Berner R, Henneke P, Radlinger K, Schwarz K, Ehl S
    J Pediatr 2004(5): 698-700 [PubMed abstract].

    2003

  • Pyogenic bacterial infections in humans with IRAK-4 deficiency.
    Picard C, Puel A, Bonnet M, Ku CL, Bustamante J, Yang K, Soudais C, Dupuis S, Feinberg J, Fieschi C, Elbim C, Hitchcock R, Lammas D, Davies G, Al-Ghonaium A, Al-Rayes H, Al-Jumaah S, Al-Hajjar S, Al-Mohsen IZ, Frayha HH, Rucker R, Hawn TR, Aderem A, Tufenkeji H, Haraguchi S, Day NK, Good RA, Gougerot-Pocidalo MA, Ozinsky A, Casanova JL
    Science 2003(5615): 2076-9 [PubMed abstract].

  • Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections.
    Medvedev AE, Lentschat A, Kuhns DB, Blanco JC, Salkowski C, Zhang S, Arditi M, Gallin JI, Vogel SN
    J Exp Med 2003(4): 521-31 [PubMed abstract].

    1997

  • Endotoxin and IL-1 hyporesponsiveness in a patient with recurrent bacterial infections.
    Kuhns DB, Long Priel DA, Gallin JI
    J Immunol 1997(8): 3959-64 [PubMed abstract].

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Last modified 16.06.2011