MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

Blood. 2012 Apr 12;119(15):3458-68. doi: 10.1182/blood-2011-09-378364. Epub 2011 Dec 14.

Abstract

The molecular mechanisms that underlie T-cell quiescence are poorly understood. In the present study, we report a primary immunodeficiency phenotype associated with MST1 deficiency and primarily characterized by a progressive loss of naive T cells. The in vivo consequences include recurrent bacterial and viral infections and autoimmune manifestations. MST1-deficient T cells poorly expressed the transcription factor FOXO1, the IL-7 receptor, and BCL2. Conversely, FAS expression and the FAS-mediating apoptotic pathway were up-regulated. These abnormalities suggest that increased cell death of naive and proliferating T cells is the main mechanism underlying this novel immunodeficiency. Our results characterize a new mechanism in primary T-cell immunodeficiencies and highlight a role of the MST1/FOXO1 pathway in controlling the death of human naive T cells.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Cell Survival / genetics
  • Cells, Cultured
  • Child
  • Child, Preschool
  • Family
  • Female
  • Genes, Recessive / physiology
  • Humans
  • Immunologic Deficiency Syndromes / blood
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology*
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Mutation* / physiology
  • Pedigree
  • Protein Serine-Threonine Kinases / genetics*
  • T-Lymphocytes / immunology
  • T-Lymphocytes / physiology*

Substances

  • Intracellular Signaling Peptides and Proteins
  • STK4 protein, human
  • Protein Serine-Threonine Kinases