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

T Mizukami, M Obara, R Nishikomori, T Kawai… - Journal of clinical …, 2012 - Springer
T Mizukami, M Obara, R Nishikomori, T Kawai, Y Tahara, N Sameshima, K Marutsuka…
Journal of clinical immunology, 2012Springer
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 …
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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