The wide implementation of next-generation sequencing (NGS) technologies has
revolutionized the field of medical genetics. However, the short read lengths of currently …

Background Incontinentia pigmenti (IP) is a rare multisystemic X‐linked dominant genetic
disorder characterized by highly diagnostic skin lesions. The disease can be misdiagnosed …

BACKGROUND: An increasing number of rare genetic defects are associated with
immunodeficiency and impaired ability to activate gene transcription through nuclear factor …

Incontinentia Pigmenti (IP) is an X-linked genodermatosis that is lethal for males and present
in females with abnormal skin pigmentation and high variable clinical signs, including retinal …

We report here on the building-up of a database of information related to 386 cases of
Incontinentia Pigmenti collected in a thirteen-year activity (2000–2013) at our centre of …

Mutations in the inhibitor of kappa light polypeptide gene enhancer in B‐cells, kinase
gamma (IKBKG), also called nuclear factor‐kappaB (NF‐kB) essential modulator (NEMO) …

Incontinentia pigmenti (IP) is an X‐linked‐dominant M endelian disorder caused by mutation
in the IKBKG/NEMO gene, encoding for NEMO/IKK gamma, a regulatory protein of nuclear …

X-linked dominant incontinentia pigmenti (IP) and X-linked recessive anhidrotic ectodermal
dysplasia with immunodeficiency (EDA-ID) are caused by loss-of-function and hypomorphic …

The nuclear factor (NF)‐κB family of transcription factors serves vital roles in a wide array of
cell functions. An increasing number of human genetic lesions that result in defined disease …

BACKGROUND: Many receptors rely on the appropriate activation of nuclear factor (NF) κB
to induce cellular function. This process depends critically on the phosphorylation of the …