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Article

Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.

Journal of clinical immunology - 1 Aug 2017

Ohnishi Hidenori, Kishimoto Yuka, Taguchi Tomohide, Kawamoto Norio, Nakama Mina, Kawai Tomoki, Nakayama Manabu, Ohara Osamu, Orii Kenji, Fukao Toshiyuki

Abstract excerpt

PURPOSE: Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is caused by mutations in the NF-κB essential modulator (NEMO) or NF-κB inhibitor, alpha (IKBA) genes. A heterozygous NEMO mutation causes incontinentia pigmenti (IP) in females, while a hemizygous hypomorphic mutation of NEMO causes EDA-ID in males. In general, immunodeficiency is not shown in IP patients. Here, we investigated two female...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28702714
DOI: 10.1007/s10875-017-0417-3

Genes

EDA
TNF
IRAK4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.PMID 28702714Read ↗

EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.Semantic proximity Read ↗

Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti.Semantic proximity Read ↗

Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.Semantic proximity Read ↗

Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency.Semantic proximity Read ↗

Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology.Semantic proximity Read ↗

A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).Semantic proximity Read ↗

Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma).Semantic proximity Read ↗

Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP MalesSemantic proximity Read ↗

Rescue of recurrent deep intronic mutation underlying cell type–dependent quantitative NEMO deficiencySemantic proximity Read ↗

The range of defects associated with nuclear factor kappaB essential modulator.Semantic proximity Read ↗

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.Semantic proximity Read ↗

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

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