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

Jessica EigemannAles JandaCatharina SchuetzMin Ae Lee-KirschAnsgar SchulzManfred HoenigIngrid FurlanEva-Maria JacobsenJulia ZinngrebeSarah PetersCosima DrewesReiner SiebertEva-Maria RumpMarita FührerMyriam LorenzUlrich PannickeUwe KölschKlaus-Michael DebatinHorst von BernuthKlaus SchwarzKerstin Felgentreff

Published in: Journal of clinical immunology (2024)

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.

Keyphrases

signaling pathway
oxidative stress
case report
gene expression
dna methylation
inflammatory response