The expanding spectrum of the autoimmune lymphoproliferative syndromes

Curr Opin Pediatr. 2013 Dec;25(6):722-9. doi: 10.1097/MOP.0000000000000032.

Abstract

Purpose of review: Several autoimmune lymphoproliferative syndromes have been described lately. We review here the main clinical and laboratory findings of these new disorders.

Recent findings: The prototypical autoimmune lymphoproliferative syndrome (ALPS) has had its diagnostic criteria modified, somatic mutations in RAS genes were found to cause an ALPS-like syndrome in humans, and mutations in a gene encoding a protein kinase C (PRKCD) were discovered to cause a syndrome of lymphoproliferation, autoimmunity and natural killer cell defect.

Summary: The recent discoveries shed light on the molecular pathways governing lymphocyte death, proliferation and immune tolerance in humans.

Publication types

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

MeSH terms

  • Apoptosis / genetics
  • Apoptosis / immunology*
  • Autoimmune Lymphoproliferative Syndrome / diagnosis*
  • Autoimmune Lymphoproliferative Syndrome / genetics
  • Autoimmune Lymphoproliferative Syndrome / immunology
  • Autoimmunity / genetics
  • Cell Proliferation
  • Fas-Associated Death Domain Protein / immunology
  • Female
  • Genes, ras* / genetics
  • Genes, ras* / immunology
  • Humans
  • Immune Tolerance / genetics
  • Immune Tolerance / immunology*
  • Inflammation / genetics
  • Inflammation / immunology*
  • Inflammation / pathology
  • Male
  • Mutation / immunology
  • Protein Kinase C-delta / immunology
  • Signal Transduction / genetics
  • Signal Transduction / immunology

Substances

  • FADD protein, human
  • Fas-Associated Death Domain Protein
  • PRKCD protein, human
  • Protein Kinase C-delta