Incontinentia pigmenti in a father and daughter

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

doi:10.1111/bjd.14615

Incontinentia pigmenti in a father and daughter

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

Dermatology

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Abstract

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 language	English
Journal	British Journal of Dermatology
Early online date	1 Apr 2016
DOIs	https://doi.org/10.1111/bjd.14615
Publication status	E-pub ahead of print - 1 Apr 2016

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title = "Incontinentia pigmenti in a father and daughter",

abstract = "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.",

author = "Elham Rashidghamat and Chao-Kai Hsu and A Nanda and Lu Liu and Hejab Al-Ajmi and McGrath, {John Alexander}",

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AU - Rashidghamat, Elham

AU - Hsu, Chao-Kai

AU - Nanda, A

AU - Liu, Lu

AU - Al-Ajmi, Hejab

AU - McGrath, John Alexander

PY - 2016/4/1

Y1 - 2016/4/1

N2 - 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.

AB - 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.

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M3 - Article

SN - 0007-0963

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Incontinentia pigmenti in a father and daughter

Abstract

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