Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti

@article{Consortium2000GenomicRI,
  title={Genomic rearrangement in NEMO impairs NF-$\kappa$B activation and is a cause of incontinentia pigmenti},
  author={The International HapMap Consortium},
  journal={Nature},
  year={2000},
  volume={405},
  pages={466-472}
}
Familial incontinentia pigmenti (IP; MIM 308310) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males. In affected females it causes highly variable abnormalities of the skin, hair, nails, teeth, eyes and central nervous system. The prominent skin signs occur in four classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation and dermal scarring1. Cells expressing the mutated X… 
Incontinentia pigmenti in a father and daughter
TLDR
A male adult with IP, with survival being attributed to tissue mosaicism, who then fathered a female child with IP affecting her germline is described, which underlies ~80% of IP cases worldwide.
A Case of Incontinentia Pigmenti in Japan and Its Genetic Examination
TLDR
This is the first case report of a Japanese female phenotype demonstrating the common genomic rearrangement in the NEMO gene, indicating cells having no protection against apoptosis in response to tumor necrosis factor as the pathogenicity of the disease.
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.
TLDR
An autosomal-dominant form of EDA-ID associated with a heterozygous missense mutation at serine 32 of IkappaBalpha is described, which enhances the inhibitory capacity of IkappBalpha by preventing its phosphorylation and degradation, and results in impaired NF-kappaB activation.
Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism
TLDR
This is the first report of the assay for the mosaicism ratio of a male IP case with a recurrent exon 4–10 deletion of IKBKG/NEMO and the sequencing analysis of the breakpoints of the recurrent deletion directly using patient’s sample.
Incontinentia Pigmenti.
Mutation identification in a canine model of X-linked ectodermal dysplasia
TLDR
In a breeding colony of dogs with XHED, immune system defects had been suspected because of frequent pulmonary infections and unexpected deaths resulting from pneumonia, and linkage analysis and sequencing experiments were performed to determine if defects in EDA or IKBKG cause XhED in the dogs.
Rescue of recurrent deep intronic mutation underlying cell type–dependent quantitative NEMO deficiency
TLDR
A recurrent deep intronic splicing mutation in IKBKG underlies a purely quantitative NEMO defect in males that is most severe in leukocytes and can be rescued by the inhibition of SRSF6 or CLK.
Incontinentia pigmenti in boys: Causes and consequences.
Incontinentia pigmenti in a Japanese female infant with a novel frame‐shift mutation in the IKBKG gene
TLDR
The cytoplasmic accumulation of NF-jB2 in the present case suggests that the cutaneous autoinflammation may be due to impaired non-canonical NF- jB2 signaling in the epidermis.
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