Incontinentia pigmenti in a father and daughter

Elham Rashidghamat, Chao-Kai Hsu, A Nanda, Lu Liu, Hejab Al-Ajmi, John Alexander McGrath

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)
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Incontinentia pigmenti (IP) is a rare multi-system X-linked dominant genetic disorder caused by mutations in IKBKG, encoding inhibitor of nuclear factor kappa-B kinase subunit gamma (IKK- γ). Functionally, the encoded IKK- γ protein participates in nuclear factor kappa-light-chain-enhancer of activated B cell (NF-κB) signalling to regulate inflammatory and immune responses and prevent apoptosis. Loss-of-function mutations in IKBKG, as occurs in IP, leave mutant cells vulnerable to apoptosis when exposed to tumour necrosis factor alpha.
Original languageEnglish
JournalBritish Journal of Dermatology
Early online date1 Apr 2016
Publication statusE-pub ahead of print - 1 Apr 2016


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