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.
Authors
- Sarah Peters (ORCID: https://orcid.org/0000-0003-1949-3995)
- Manfred Hoenig (ORCID: https://orcid.org/0000-0001-9165-1690)
- Eva-Maria Rump
- Horst von Bernuth (ORCID: https://orcid.org/0000-0002-5812-7675)
- Ansgar Schulz (ORCID: https://orcid.org/0000-0002-7798-7996)
- Aleš Janda (ORCID: https://orcid.org/0000-0001-5604-8378)
- Eva‐Maria Jacobsen (ORCID: https://orcid.org/0000-0003-4750-0136)
- Marita Führer (ORCID: https://orcid.org/0000-0002-3423-0854)
- Klaus Schwarz (ORCID: https://orcid.org/0000-0001-5455-2394)
- Julia Zinngrebe
- Cosima Drewes
- Ulrich Pannicke (ORCID: https://orcid.org/0000-0002-0929-1794)
- Uwe Kölsch (ORCID: https://orcid.org/0000-0001-5052-5049)
- Myriam Ricarda Lorenz (ORCID: https://orcid.org/0000-0002-3537-4550)
- Kerstin Felgentreff (ORCID: https://orcid.org/0000-0002-3013-0362)
- Klaus‐Michael Debatin (ORCID: https://orcid.org/0000-0002-8397-1886)
- Reiner Siebert (ORCID: https://orcid.org/0000-0002-6492-5323)
- Min Ae Lee-Kirsch
- Jessica Eigemann
- Catharina Schuetz (ORCID: https://orcid.org/0000-0001-8731-8924)
- Ingrid Furlan
Institutions
- 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)
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
- Universität Ulm