A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

American Journal of Human Genetics

Volumn 67, Issue 6, 2000, Pages 1555-1562

  Zonana, Jonathan ^a   Elder, Melissa E ^b   Schneider, Lynda C ^c   Orlow, Seth J ^d   Moss, Celia ^e   Golabi, Mahin ^b   Shapira, Stuart K ^g   Farndon, Peter A ^f   Wara, Diane W ^b   Emmal, Stephanie A ^a   Ferguson, Betsy M ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^f BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^g NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; B LYMPHOCYTE; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; HAIR; HUMAN; IMMUNE DEFICIENCY; INCONTINENTIA PIGMENTI; PEDIGREE; PRIORITY JOURNAL; RECURRENT INFECTION; SWEAT GLAND; T LYMPHOCYTE; X CHROMOSOME LINKAGE; X CHROMOSOME RECESSIVE INHERITANCE;

EID: 0033658369     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/316914     Document Type: Article

References (33)

1. Anhidrotic ectodermal dysplasia associated with specific antibody deficiency
2. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia
3. X-linked immunodeficiencies
4. NF-kappa B RelA-deficient lymphocytes: Normal development of T cells and B cells, impaired production of IgA and IgG1 and reduced proliferative responses
5. RANK is essential for osteoclast and lymph node development
6. Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and colocalizes with cytoskeletal structures at lateral and apical surfaces of cells
7. Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: Diagnostic implications
8. Requirement for NF-kappaB in osteoclast and B-cell development
9. Ectodermal dysplasias - Some recollections and a classification
10. IKKgamma serves as a docking subunit of the IkappaB kinase (IKK) and mediates interaction of IKK with the human T-cell leukemia virus Tax protein
11. Involvement of a novel Tnf receptor homologue in hair follicle induction
12. The IKK complex: An integrator of all signals that activate NF-kappaB?
13. Isolation of full-length cDNA and chromosomal localization of human NF-kappaB modulator NEMO to Xq28
14. It's got you covered: NF-kappaB in the epidermis
15. Incontinentia pigmenti (Bloch-Sulzberger syndrome)
16. Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti
17. Mutations in the human homologue of mouse d1 cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
18. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations
19. Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder
20. Selection against mutant alleles in blood leukocytes is a consistent feature in incontinentia pigmenti type 2
21. Molecular and genetic basis of X-linked immunodeficiency disorders
22. TTRAP, a novel protein that associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor-associated factors (TRAFs), and that inhibits nuclear factor-kappa B activation
23. IKK-gamma is an essential regulatory subunit of the IkappaB kinase complex
24. Severe liver degeneration and lack of NF-kappaB activation in NEMO/IKKgamma-deficient mice
25. NEMO/IKK gamma-deficient mice model incontinentia pigmenti
26. Polysaccharide specific humoral immunodeficiency in ectodermal dysplasia: Case report of a boy with two affected brothers
27. Targeted disruption of the p50 subunit of NF-kappa B leads to multifocal defects in immune responses
28. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti: The International Incontinentia Pigmenti (IP) Consortium
29. The molecular basis and treatment of primary immunodeficiency disorders
30. Bilateral sequential lung transplant for ectodermal dysplasia
31. Characterisation of molecular DNA rearrangements within the Xq12-q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA)
32. Domain-specific interaction with IKKgamma is an essential step in tax-mediated activation of IKK
33. Complementation cloning of NEMO, a component of the IkappaB kinase complex essential for NF-kappaB activation