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

doi:10.1007/s10875-024-01799-2

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Article

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

Journal of clinical immunology - 12 Sept 2024

Eigemann Jessica, Janda Ales, Schuetz Catharina, Lee-Kirsch Min Ae, Schulz Ansgar, Hoenig Manfred, Furlan Ingrid, Jacobsen Eva-Maria, Zinngrebe Julia, Peters Sarah, Drewes Cosima, Siebert Reiner, Rump Eva-Maria, Führer Marita, Lorenz Myriam, Pannicke Ulrich, Kölsch Uwe, Debatin Klaus-Michael, von Bernuth Horst, Schwarz Klaus, Felgentreff Kerstin

Abstract excerpt

PURPOSE: Genetic hypomorphic defects in X chromosomal IKBKG coding for the NF-κB essential modulator (NEMO) lead to ectodermal dysplasia and immunodeficiency in males and the skin disorder incontinentia pigmenti (IP) in females, respectively. NF-κB essential modulator (NEMO) Δ-exon 5-autoinflammatory syndrome (NEMO-NDAS) is a systemic autoinflammatory disease caused by alternative splicing and increased...

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PMID: 39264518
DOI: 10.1007/s10875-024-01799-2
PMCID: PMC11393190

Genes

TNF
CXCL10

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Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti.PMID 39264518Read ↗

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).Semantic proximity Read ↗

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 ↗

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

Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype.Semantic proximity Read ↗

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.Semantic proximity Read ↗

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