Successful treatment with infliximab for inflammatory colitis in a patient with X-linked anhidrotic ectodermal dysplasia with immunodeficiency

J Clin Immunol. 2012 Feb;32(1):39-49. doi: 10.1007/s10875-011-9600-0. Epub 2011 Oct 13.

Abstract

X-linked anhidrotic ectodermal dysplasia with immunodeficiency (X-EDA-ID) is caused by hypomorphic mutations in the gene encoding nuclear factor-κB essential modulator protein (NEMO). Patients are susceptibile to diverse pathogens due to insufficient cytokine and frequently show severe chronic colitis. An 11-year-old boy with X-EDA-ID was hospitalized with autoimmune symptoms and severe chronic colitis which had been refractory to immunosuppressive drugs. Since tumor necrosis factor (TNF) α is responsible for the pathogenesis of NEMO colitis according to intestinal NEMO and additional TNFR1 knockout mice studies, and high levels of TNFα-producing mononuclear cells were detected in the patient due to the unexpected gene reversion mosaicism of NEMO, an anti-TNFα monoclonal antibody was administered to ameliorate his abdominal symptoms. Repeated administrations improved his colonoscopic findings as well as his dry skin along with a reduction of TNFα-expressing T cells. These findings suggest TNF blockade therapy is of value for refractory NEMO colitis with gene reversion.

Publication types

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

MeSH terms

  • Anti-Inflammatory Agents / therapeutic use*
  • Antibodies, Monoclonal / therapeutic use*
  • Base Sequence
  • Child
  • Colitis / complications*
  • Colitis / drug therapy*
  • Colitis / genetics
  • Colon / pathology
  • Ectodermal Dysplasia 1, Anhidrotic / complications*
  • Ectodermal Dysplasia 1, Anhidrotic / genetics
  • Humans
  • I-kappa B Kinase / genetics
  • Immunologic Deficiency Syndromes / complications*
  • Immunologic Deficiency Syndromes / genetics
  • Infliximab
  • Male
  • Mutation
  • T-Lymphocytes / immunology
  • T-Lymphocytes / metabolism
  • Treatment Outcome
  • Tumor Necrosis Factor-alpha / antagonists & inhibitors
  • Tumor Necrosis Factor-alpha / biosynthesis

Substances

  • Anti-Inflammatory Agents
  • Antibodies, Monoclonal
  • IKBKG protein, human
  • Tumor Necrosis Factor-alpha
  • Infliximab
  • I-kappa B Kinase