Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome

Clin Immunol. 2009 Jul;132(1):124-31. doi: 10.1016/j.clim.2009.03.514. Epub 2009 Apr 16.

Abstract

The NEMO syndrome is a primary immunodeficiency with immune and non-immune manifestations. The immune deficiency is heterogeneous showing defects in humoral, innate, and cell-mediated immunity. While the clinical aspects of the immunodeficiency are increasingly well understood, little is known about autoimmune manifestations in NEMO patients. We therefore sought to examine serologic markers of systemic inflammation and intestinal pathology in a kindred of patients with the NEMO syndrome. We observed persistent elevation of erythrocyte sedimentation rates in five patients, and two were symptomatic, with a chronic but atypical enterocolitis. Though pathologic lesions in these two patients were consistent with acute inflammation, sustained clinical improvement was only achieved with systemic and/or topical glucocorticoid therapy. Our data suggest that some patients with the NEMO syndrome exhibit persistent elevation of inflammatory markers similar to systemic autoimmune diseases and may subsequently develop an atypical enterocolitis.

Publication types

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

MeSH terms

  • Adolescent
  • Blood Sedimentation
  • Child
  • Child, Preschool
  • Colonoscopy
  • Enterocolitis / blood
  • Enterocolitis / etiology*
  • Enterocolitis / pathology
  • Female
  • Humans
  • Immunologic Deficiency Syndromes / blood
  • Immunologic Deficiency Syndromes / complications*
  • Immunologic Deficiency Syndromes / pathology
  • Infant
  • Inflammation / blood
  • Inflammation / etiology*
  • Inflammation / pathology
  • Male
  • Pedigree