Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease

@article{Hernandez2003MutationsIT,
  title={Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease},
  author={Paolo A. Hernandez and Robert J. Gorlin and John Nicholas Lukens and Shoichiro Taniuchi and Jo{\vz}e Bohinjec and Fleur François and Mary E. Klotman and George A Diaz},
  journal={Nature Genetics},
  year={2003},
  volume={34},
  pages={70-74}
}
WHIM syndrome is an immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis. The susceptibility to HPV is disproportionate compared with other immunodeficiency conditions, suggesting that the product of the affected gene may be important in the natural control of this… CONTINUE READING
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References

Publications referenced by this paper.
SHOWING 1-10 OF 34 REFERENCES

Characterization of sequence determinants within the carboxylterminal domain of chemokine receptor CCR5 which regulate signaling and receptor internalization

  • K Kraft
  • J. Biol. Chem
  • 2001

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia

  • Dale, D.C
  • Blood 96,
  • 2000

clinical, hematological, and molecular studies

  • Gorlin, R. J. et al. WHIM syndrome, an autosomal dominant disorder
  • Am. J. Med. Genet. 91, 368–376
  • 2000

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