Correction of interleukin-2 receptor function in X-SCID lymphoblastoid cells by retrovirally mediated transfer of the gamma-c gene

Blood. 1996 Apr 15;87(8):3103-7.

Abstract

X-SCID, the most common form of human SCID, is due to mutations in the common gamma chain gene (gamma-c) that encodes an essential component of the cytokine receptors for interleukin-2 (IL-2), IL-4, IL-7, IL-9, and IL-15. Activation of the Janus family tyrosine kinases Jak1 and Jak3 is necessary for appropriate signalling through the IL-2 receptor (IL-2R). Neither Jak1 nor Jak3 was phosphorylated after IL-2 stimulation of an Epstein-Barr virus-transformed cell line (LCL) from an X-SCID patient with a gamma-c null mutation. However, we now show that appropriate IL-2R function can be restored in an X-SCID LCL by transduction of a wild-type gamma-c gene. A retroviral vector, G1gamma-cSvNa, was constructed and produced in the PG13 packaging line. Transduced X-SCID LCL expressed the G1gamma-cSvNa transcript. IL-2 stimulation of the transduced cell line resulted in appropriate tyrosine phosphorylation of both Jak1 and Jak3. Thus, retroviral-mediated transduction of normal gamma-c can reconstitute downstream signalling through the IL-2R in X-SCID cell lines, suggesting that gene therapy may be a treatment for this disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • B-Lymphocytes / drug effects
  • B-Lymphocytes / metabolism*
  • B-Lymphocytes / pathology
  • Base Sequence
  • Cell Line, Transformed
  • Genetic Complementation Test
  • Genetic Therapy*
  • Genetic Vectors / genetics*
  • Herpesvirus 4, Human
  • Humans
  • Interleukin-2 / pharmacology
  • Janus Kinase 1
  • Janus Kinase 3
  • Male
  • Molecular Sequence Data
  • Phosphorylation
  • Protein Processing, Post-Translational
  • Protein-Tyrosine Kinases / metabolism
  • Receptors, Interleukin-2 / biosynthesis
  • Receptors, Interleukin-2 / genetics*
  • Receptors, Interleukin-2 / physiology
  • Recombinant Fusion Proteins / metabolism
  • Retroviridae / genetics*
  • Severe Combined Immunodeficiency / genetics
  • Severe Combined Immunodeficiency / pathology
  • Severe Combined Immunodeficiency / therapy*
  • Transfection
  • X Chromosome / genetics

Substances

  • Interleukin-2
  • Receptors, Interleukin-2
  • Recombinant Fusion Proteins
  • Protein-Tyrosine Kinases
  • JAK1 protein, human
  • JAK3 protein, human
  • Janus Kinase 1
  • Janus Kinase 3