An Slfn2 mutation causes lymphoid and myeloid immunodeficiency due to loss of immune cell quiescence

Nat Immunol. 2010 Apr;11(4):335-43. doi: 10.1038/ni.1847. Epub 2010 Feb 28.

Abstract

Here we describe a previously unknown form of inherited immunodeficiency revealed by an N-ethyl-N-nitrosourea-induced mutation called elektra. Mice homozygous for this mutation showed enhanced susceptibility to bacterial and viral infection and diminished numbers of T cells and inflammatory monocytes that failed to proliferate after infection and died via the intrinsic apoptotic pathway in response to diverse proliferative stimuli. They also had a greater proportion of T cells poised to replicate DNA, and their T cells expressed a subset of activation markers, suggestive of a semi-activated state. We positionally ascribe the elektra phenotype to a mutation in the gene encoding Schlafen-2 (Slfn2). Our findings identify a physiological role for Slfn2 in the defense against pathogens through the regulation of quiescence in T cells and monocytes.

Publication types

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

MeSH terms

  • Animals
  • Apoptosis / immunology
  • Base Sequence
  • Cell Cycle Proteins / genetics*
  • Cell Cycle Proteins / immunology*
  • Cell Separation
  • Flow Cytometry
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology*
  • Leukocytes, Mononuclear / immunology*
  • Lymphocyte Activation / immunology
  • Mice
  • Mice, Transgenic
  • Mutation
  • Phenotype
  • Signal Transduction / immunology
  • T-Lymphocytes / immunology*

Substances

  • Cell Cycle Proteins
  • schlafen-2 protein, mouse