References
- Fryssira H, Kakourou T, Valari M, Stefanaki K, Amenta S, Kanavakis E. Incontinentia pigmenti revisited. A novel nonsense mutation of the IKBKG gene. Acta Paediatr. 2011;100:128–133.
- Fusco F, Conte MI, Diociauti A, et al. Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males. Pediatrics. 2017;140:20162950.
- Fusco F, Paciolla M, Conte MI, et al. Incontinentia pigmenti: report on data from 2000 to 2013. Orphanet J Rare Dis. 2014;9:93.
- Aradhya S, Woffendin H, Jakins T, et al. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet. 2001;10:2171–2179.
- Has C, Danescu S, Volz A, Noh F, Technau K, Bruckner-Tuderman L. Incontinentia pigmenti in a newborn with a novel nonsense mutation in the NEMO gene. Br J Dermatol. 2007;156:378–410.
- Landy SJ, Donnai D. Incontinentia pigmenti(Bloch-Sulzberger syndrome). J Med Genet. 1993;30:53–59.
- Kawai M, Kato T, Tsutsumi M, Shinkai Y, Inagaki H, Kurahashi H. Molecular analysis of low‐level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti. Mol Genet Genomic Med. 2020;8:1531.
- Okita M, Nakanishi G, Fujimoto N, et al. NEMO gene rearrangement (exon 4–10 deletion) and genotype–phenotype relationship in Japanese patients with incontinentia pigmenti and review of published work in Japanese patients. J Dermatol. 2013;40:272–276.
- Olivera G, Mokina K, Stéphane D, et al. DARPin-Assisted Crystallography of the CC2-LZ Domain of NEMO Reveals a Coupling between Dimerization and Ubiquitin Binding. J Mol Biol. 2010;395:89–104.
- Fusco F, Pescatore A, Conte MI, et al. 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. Int Rev Immunol. 2015;34:445–459.
- Maubach G, Naumann M. NEMO Links Nuclear Factor-κB to Human Diseases. Trends Mol Med. 2017;1285:1–18.
- Rahighi S, Ikeda F, Kawasaki M, et al. Specific Recognition of Linear Ubiquitin Chains by NEMO Is Important for NF-κB Activation. Cell. 2009;136:1098–1109.
- Courtois G, Gilmore TD. Mutations in the NF-κB signaling pathway: implications for human disease. Oncogene. 2006;25:6831–6843.
- Courtois G, Israël A. IKK Regulation and Human Genetics. Berlin, Heidelberg: Springer Berlin Heidelberg; 2010:73–95.
- Minić S, Trpinac D, Gabriel H, Gencik M, Obradović M. Dental and oral anomalies in incontinentia pigmenti: a systematic review. Clin Oral Investig. 2013;17:1–8.
- Hull S, Arno G, Thomson P, et al. Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti. Am J Med Genet A. 2015;167:1601–1604.
- Fusco F, Fimiani G, Tadini G, Michele D, Ursini MV. Clinical diagnosis of incontinentia pigmenti in a cohort of male patients. J Am Acad Dermatol. 2007;56:264–267.