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

  title={Defective IL7R expression in T-B+NK + severe combined immunodeficiency},
  author={Anne Puel and Steven F. Ziegler and Rebecca H Buckley and Warren J. Leonard.},
  journal={Nature Genetics},
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 γ chain (γc) 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 γc (Refs 9,12) and is required for γ c-dependent signalling, T- and natural killer (NK… CONTINUE READING
Highly Influential
This paper has highly influenced a number of papers. REVIEW HIGHLY INFLUENTIAL CITATIONS