title: Successful treatment with infliximab for inflammatory colitis in a patient with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.
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.
authors: Division of Pediatrics, Department of Reproductive and Developmental Medicine, Faculty of Medicine, University of Miyazaki, 5200 Kihara, Kiyotake, Miyazaki, 889-1692, Japan.
authors: Tomoyuki
authors: T
authors: Mizukami
authors: Megumi
authors: M
authors: Obara
authors: Ryuta
authors: R
authors: Nishikomori
authors: Tomoki
authors: T
authors: Kawai
authors: Yoshihiro
authors: Y
authors: Tahara
authors: Naoki
authors: N
authors: Sameshima
authors: Kousuke
authors: K
authors: Marutsuka
authors: Hiroshi
authors: H
authors: Nakase
authors: Nobuhiro
authors: N
authors: Kimura
authors: Toshio
authors: T
authors: Heike
authors: Hiroyuki
authors: H
authors: Nunoi
mesh_terms: D000893:Anti-Inflammatory Agents / Q000627:therapeutic use*; D000911:Antibodies, Monoclonal / Q000627:therapeutic use*; D001483:Base Sequence; D002648:Child; D003092:Colitis / Q000150:complications* / Q000188:drug therapy* / Q000235:genetics; D003106:Colon / Q000473:pathology; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000150:complications* / Q000235:genetics; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000235:genetics; D000069285:Infliximab; D008297:Male; D009154:Mutation; D013601:T-Lymphocytes / Q000276:immunology / Q000378:metabolism; D016896:Treatment Outcome; D014409:Tumor Necrosis Factor-alpha / Q000037:antagonists & inhibitors / Q000096:biosynthesis
chemical_list: D000893:Anti-Inflammatory Agents; D000911:Antibodies, Monoclonal; C491731:IKBKG protein, human; D014409:Tumor Necrosis Factor-alpha; D000069285:Infliximab; D051550:I-kappa B Kinase