Journal of Clinical Immunology

, Volume 32, Issue 1, pp 39–49 | Cite as

Successful Treatment with Infliximab for Inflammatory Colitis in a Patient with X-linked Anhidrotic Ectodermal Dysplasia with Immunodeficiency

  • Tomoyuki Mizukami
  • Megumi Obara
  • Ryuta Nishikomori
  • Tomoki Kawai
  • Yoshihiro Tahara
  • Naoki Sameshima
  • Kousuke Marutsuka
  • Hiroshi Nakase
  • Nobuhiro Kimura
  • Toshio Heike
  • Hiroyuki Nunoi
Article

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.

Keywords

NEMO colitis infliximab gene reversion 

Supplementary material

10875_2011_9600_MOESM1_ESM.pptx (297 kb)
Supplementary Fig. 1Manifestations of our X-EDA-ID patient. (A) Herpes zoster was seen in his left chest. (B) Hypodontia and conical-shaped teeth at 4 years of age. (C) The radiograph of teeth was taken at 8 years (PPTX 296 kb)
10875_2011_9600_MOESM2_ESM.pptx (63 kb)
Supplementary Fig. 2Frequency of TCR Vα and Vβ repertoires in our X-EDA-ID patient. Bar graphs indicate the semiquantitative assessment of TCR V gene usage in peripheral blood T cells (PPTX 63.3 kb)

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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Tomoyuki Mizukami
    • 1
    • 2
  • Megumi Obara
    • 1
  • Ryuta Nishikomori
    • 3
  • Tomoki Kawai
    • 3
  • Yoshihiro Tahara
    • 4
  • Naoki Sameshima
    • 5
  • Kousuke Marutsuka
    • 5
  • Hiroshi Nakase
    • 6
  • Nobuhiro Kimura
    • 7
  • Toshio Heike
    • 3
  • Hiroyuki Nunoi
    • 1
  1. 1.Division of Pediatrics, Department of Reproductive and Developmental Medicine, Faculty of MedicineUniversity of MiyazakiMiyazakiJapan
  2. 2.Kumamoto Saishunso National HospitalKumamotoJapan
  3. 3.Department of PediatricsKyoto University Graduate School of MedicineKyotoJapan
  4. 4.Department of Gastroenterology and Hematology, Faculty of MedicineUniversity of MiyazakiMiyazakiJapan
  5. 5.Department of Pathophysiology, Faculty of MedicineUniversity of MiyazakiMiyazakiJapan
  6. 6.Department of Gastroenterology and HepatologyKyoto University Graduate School of MedicineKyotoJapan
  7. 7.Division of Medical Oncology, Hematology and Infectious Disease, Department of MedicineFukuoka UniversityFukuokaJapan

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