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

Non-skewed X-inactivation can lead to NEMO-NDAS in females with IP carrying hypomorphic IKBKG variants due to alternative splicing and increased proportions of NEMO-∆ex5.

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Publication Details

Journal
Journal of Clinical Immunology
Published
2024-09-12
DOI
https://doi.org/10.1007/s10875-024-01799-2
Citations
3
Primary Topic
Autoimmune and Inflammatory Disorders
Type
article
Field-Weighted Citation Impact
1.16

Funders

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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

Sarah Peters, Manfred Hoenig, Eva-Maria Rump, Horst von Bernuth et al.
3 citations
Journal of Clinical Immunology
Autoimmune and Inflammatory Disorders
1.16
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

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

Abstract

Non-skewed X-inactivation can lead to NEMO-NDAS in females with IP carrying hypomorphic IKBKG variants due to alternative splicing and increased proportions of NEMO-∆ex5.

Journal of Clinical ImmunologyVol. 45(1)
Universität Ulm (DE), German Red Cross (DE), Humboldt-Universität zu Berlin (DE), Vivantes Klinikum (DE), German Centre for Cardiovascular Research (DE), Berlin Institute of Health at Charité - Universitätsmedizin Berlin (DE), University Hospital Ulm (DE), University Hospital Carl Gustav Carus (DE), Technische Hochschule Ulm (DE), Technische Universität Dresden (DE), Charité - Universitätsmedizin Berlin (DE)
Universität Ulm
Good health and well-being
Openalex Percentile: Top 20%
Autoimmune and Inflammatory Disorders
1.16
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