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Article

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

Journal of clinical immunology - 1 Feb 2012

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

Abstract excerpt

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...

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Share to Anti-Inflammatory Agents
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colitis

Share to Ectodermal Dysplasia 1, Anhidrotic

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Share to Immunologic Deficiency Syndromes

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Source

Identifiers

PMID: 21993693
DOI: 10.1007/s10875-011-9600-0

Genes

EDA
TNF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Successful treatment with infliximab for inflammatory colitis in a patient with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.PMID 21993693Read ↗

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Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.Semantic proximity Read ↗

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X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.Semantic proximity Read ↗

Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-kappaB essential modulator deficiency.Semantic proximity Read ↗

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