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

Overview

Journal J Clin Immunol

Publisher Springer

Specialty Allergy & Immunology

Date 2011 Oct 14

PMID 21993693

Citations 20

Authors

Tomoyuki Mizukami

Megumi Obara

Ryuta Nishikomori

Tomoki Kawai

Yoshihiro Tahara

Naoki Sameshima

Kousuke Marutsuka

Hiroshi Nakase

Nobuhiro Kimura

Toshio Heike

Hiroyuki Nunoi

Affiliations

Soon will be listed here.

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.

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