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Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency.

Publication ,  Journal Article
Puel, A; Ziegler, SF; Buckley, RH; Leonard, WJ
Published in: Nat Genet
December 1998

Severe combined immunodeficiency (SCID) is caused by multiple genetic defects. The most common form of SCID, X-linked SCID (XSCID), results from mutations in IL2RG (ref. 4), which encodes the common cytokine receptor gamma chain (gamma(c)) that is shared by the IL-2, IL-4, IL-7, IL-9 and IL-15 receptors. In XSCID and SCID resulting from mutations in JAK3, which encodes a Janus family tyrosine kinase that couples to gamma(c) and is required for gamma(c)-dependent signalling, T- and natural killer (NK)-cells are decreased but B-cell numbers are normal (T(-)B(+)NK(-)SCID). Some SCID patients lack T cells but retain NK cells. Given diminished T-cell development in Il7- or Il7r-deficient mice and that Il/7r-deficient mice have NK cells, we hypothesized that T(-)B(+)NK(+) SCID might result from defective IL-7 signalling, although apparent differences in the role of the IL-7/IL-7R pathway in humans and mice in T-cell and B-cell development have been suggested. We now demonstrate that defective IL7R expression causes T(-)B(+)NK(+) SCID, indicating that the T-cell, but not the NK-cell, defect in XSCID results from inactivation of IL-7Ralpha signalling.

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Published In

Nat Genet

DOI

ISSN

1061-4036

Publication Date

December 1998

Volume

20

Issue

4

Start / End Page

394 / 397

Location

United States

Related Subject Headings

  • T-Lymphocytes
  • Signal Transduction
  • Severe Combined Immunodeficiency
  • Receptors, Interleukin-7
  • Polymerase Chain Reaction
  • Mutagenesis, Site-Directed
  • Molecular Sequence Data
  • Mice
  • Killer Cells, Natural
  • Infant, Newborn
 

Citation

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Puel, A., Ziegler, S. F., Buckley, R. H., & Leonard, W. J. (1998). Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. Nat Genet, 20(4), 394–397. https://doi.org/10.1038/3877
Puel, A., S. F. Ziegler, R. H. Buckley, and W. J. Leonard. “Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency.Nat Genet 20, no. 4 (December 1998): 394–97. https://doi.org/10.1038/3877.
Puel A, Ziegler SF, Buckley RH, Leonard WJ. Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. Nat Genet. 1998 Dec;20(4):394–7.
Puel, A., et al. “Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency.Nat Genet, vol. 20, no. 4, Dec. 1998, pp. 394–97. Pubmed, doi:10.1038/3877.
Puel A, Ziegler SF, Buckley RH, Leonard WJ. Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. Nat Genet. 1998 Dec;20(4):394–397.

Published In

Nat Genet

DOI

ISSN

1061-4036

Publication Date

December 1998

Volume

20

Issue

4

Start / End Page

394 / 397

Location

United States

Related Subject Headings

  • T-Lymphocytes
  • Signal Transduction
  • Severe Combined Immunodeficiency
  • Receptors, Interleukin-7
  • Polymerase Chain Reaction
  • Mutagenesis, Site-Directed
  • Molecular Sequence Data
  • Mice
  • Killer Cells, Natural
  • Infant, Newborn