Associated Papers
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.
Rosain J et al.
The Journal of Experimental Medicine, 2024
EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation.
Bret Puvilland C et al.
Journal of Clinical Immunology, 2021
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.
Conte MI et al.
Human Mutation, 2014
[An incontinentia pigmenti family with deletion in both NEMO gene and pseudogene DeltaNEMO].
Zhang G et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
Fusco F et al.
Human Mutation, 2008
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.
Aradhya S et al.
Human Molecular Genetics, 2001
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