Defective apoptosis of peripheral-blood lymphocytes in hyper-IgD and periodic fever syndrome

Blood. 2007 Mar 15;109(6):2416-8. doi: 10.1182/blood-2005-10-039578. Epub 2006 Nov 30.

Abstract

Hereditary periodic fever syndromes are characterized by incapacitating attacks of fever and generalized inflammation. While the mutated genes for the major syndromes in this group are known, the pathogenesis remains unclear. The aim of this study was to investigate apoptosis in patients with periodic fever as a possible pathogenic factor. We measured anisomycin-induced apoptosis with annexin-V flow cytometry and caspase-3/7 activity in peripheral-blood lymphocytes from symptom-free patients with hyper-IgD and periodic fever syndrome (HIDS; n = 10), TNF-receptor-associated periodic syndrome (TRAPS; n = 7), and familial Mediterranean fever (FMF; n = 2). HIDS lymphocytes showed a decreased percentage of apoptosis during remission by both methods compared with controls (17.8% vs 55.4%), whereas no difference was observed in TRAPS or FMF lymphocytes. This defective apoptosis of lymphocytes may be a central pathogenic mechanism in HIDS, since dysfunction of one of the inhibitory mechanisms to curtail the immunologic response could cause an unbridled generalized inflammation after a trivial stimulus.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Apoptosis*
  • Familial Mediterranean Fever / immunology*
  • Familial Mediterranean Fever / pathology*
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Immunoglobulin D / immunology*
  • Lymphocytes / cytology*
  • Lymphocytes / immunology*
  • Male

Substances

  • Immunoglobulin D