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- databases for immunodeficiency-causing variations

   IL7Rbase
   Variation registry for  Interleukin-7 receptor α deficiency


IL7Rbase mutation publications

[2006] [2004] [2000] [1998]

Search PubMed latest citations for IL7R mutations

    2006

  • Omenn syndrome in an infant with IL7RA gene mutation.
    Giliani S, Bonfim C, de Saint Basile G, Lanzi G, Brousse N, Koliski A, Malvezzi M, Fischer A, Notarangelo LD, Le Deist F
    J Pediatr 2006(2): 272-4 [PubMed abstract].

    2004

  • Characterization of a novel nonsense mutation in the interleukin-7 receptor alpha gene in a Korean patient with severe combined immunodeficiency.
    Jo EK, Kook H, Uchiyama T, Hakozaki I, Kim YO, Song CH, Park JK, Kanegane H, Tsuchiya S, Kumaki S
    Int J Hematol 2004(4): 332-5 [PubMed abstract].

    2000

  • A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency.
    Roifman CM, Zhang J, Chitayat D, Sharfe N
    Blood 2000(8): 2803-7 [PubMed abstract].

    1998

  • Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency.
    Puel A, Ziegler SF, Buckley RH, Leonard WJ
    Nat Genet 1998(4): 394-7 [PubMed abstract].