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   CXCR4base
   Variation registry for  WHIM syndrome


CXCR4base mutation publications

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

Search PubMed latest citations for CXCR4 mutations

    2009

  • Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients.
    Tassone L, Notarangelo LD, Bonomi V, Savoldi G, Sensi A, Soresina A, Smith CI, Porta F, Plebani A, Notarangelo LD, Badolato R
    J Allergy Clin Immunol 2009(5): 1170-3, 1173.e1-3 [PubMed abstract].

  • A case of WHIM syndrome associated with diabetes and hypothyroidism.
    Takaya J, Fujii Y, Higashino H, Taniuchi S, Nakamura M, Kaneko K
    Pediatr Diabetes 2009(7): 484-6 [PubMed abstract].

    2007

  • Recurrent CXCR4 sequence variation in a girl with WHIM syndrome.
    Alapi K, Erdos M, Kovács G, Maródi L
    Eur J Haematol 2007(1): 86-8 [PubMed abstract].

    2006

  • Stromal-derived factor-1 abolishes constitutive apoptosis of WHIM syndrome neutrophils harbouring a truncating CXCR4 mutation.
    Sanmun D, Garwicz D, Smith CI, Palmblad J, Fadeel B
    Br J Haematol 2006(6): 640-4 [PubMed abstract].

    2005

  • WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12.
    Balabanian K, Lagane B, Pablos JL, Laurent L, Planchenault T, Verola O, Lebbe C, Kerob D, Dupuy A, Hermine O, Nicolas JF, Latger-Cannard V, Bensoussan D, Bordigoni P, Baleux F, Le Deist F, Virelizier JL, Arenzana-Seisdedos F, Bachelerie F
    Blood 2005(6): 2449-57 [PubMed abstract].

  • Sporadic case of warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis syndrome.
    Tarzi MD, Jenner M, Hattotuwa K, Faruqi AZ, Diaz GA, Longhurst HJ
    J Allergy Clin Immunol 2005(5): 1101-5 [PubMed abstract].

    2004

  • Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome.
    Gulino AV, Moratto D, Sozzani S, Cavadini P, Otero K, Tassone L, Imberti L, Pirovano S, Notarangelo LD, Soresina R, Mazzolari E, Nelson DL, Notarangelo LD, Badolato R
    Blood 2004(2): 444-52 [PubMed abstract].

    2003

  • Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease.
    Hernandez PA, Gorlin RJ, Lukens JN, Taniuchi S, Bohinjec J, Francois F, Klotman ME, Diaz GA
    Nat Genet 2003(1): 70-4 [PubMed abstract].