X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling

Nature Genetics

Volumn 27, Issue 3, 2001, Pages 277-285

  Döffinger, Rainer ^a   Smahi, Asma ^b   Bessia, Christine ^c   Geissmann, Frédéric ^b   Feinberg, Jacqueline ^a   Durandy, Anne ^b   Bodemer, Christine ^b   Kenwrick, Sue ^d   Dupuis Girod, Sophie ^b   Blanche, Stéphane ^a,b   Wood, Philip ^e   Rabia, Smail Hadj ^b   Headon, Denis J ^f   Overbeek, Paul A ^f   Le Deist, Françoise ^b   Holland, Steven M ^g   Belani, Kiran ^h   Kumararatne, Dinakantha S ^d   Fischer, Alain ^b   Shapiro, Ralph ^h   Conley, Mary Ellen ^d   Reimund, Eric ⁱ   Kalhoff, Hermann ^j   Abinun, Mario ^k   Munnich, Arnold ^b   Israël, Alain ^c   Courtois, Gilles ^c   Casanova, Jean Laurent ^a,b   more..

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c INSTITUT PASTEUR   (France)

^d ADDENBROOKE S HOSPITAL   (United Kingdom)

^e BIRMINGHAM HEARTLANDS HOSPITAL   (United Kingdom)

^f BAYLOR COLLEGE OF MEDICINE   (United States)

^g NATIONAL INSTITUTES OF HEALTH   (United States)

^h Midwest Immunology Clinic   (United States)

ⁱ ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^j Med South Pathology Associates   (United States)

^k NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERLEUKIN 18; INTERLEUKIN 1BETA; LIPOPOLYSACCHARIDE; TUMOR NECROSIS FACTOR ALPHA;

ALBERS SCHOENBERG DISEASE; ANHIDROSIS; ARTICLE; CASE REPORT; ECTODERMAL DYSPLASIA; GENE MUTATION; GERM LINE; HUMAN; HUMAN TISSUE; IMMUNE DEFICIENCY; LYMPHEDEMA; MALE; MOLECULAR GENETICS; PRESCHOOL CHILD; PRIORITY JOURNAL; STOP CODON; X CHROMOSOME RECESSIVE INHERITANCE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CODON, TERMINATOR; ECTODERMAL DYSPLASIA; ECTODYSPLASINS; HUMANS; I-KAPPA B KINASE; IMMUNITY, CELLULAR; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MUTATION; NF-KAPPA B; PROTEIN-SERINE-THREONINE KINASES; SIGNAL TRANSDUCTION; SYNDROME; X CHROMOSOME;

EID: 0035093630     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/85837     Document Type: Article

References (50)

1. Ectodermal dysplasias: A clinical classification and a causal review
2. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
3. Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells
4. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
5. Acute miliary tuberculosis in a child with anhidrotic ectodermal dysplasia
6. Extramedullary hematopoiesis of the cranial dura and anhidrotic ectodermal dysplasia
7. Anhidrotic ectodermal dysplasia associated with specific antibody deficiency
8. Polysaccharide specific humoral immunodeficiency in ectodermal dysplasia. Case report of a boy with two affected brothers
9. Thymic hypoplasia and T-cell deficiency in ectodermal dysplasia: Case report and review of the literature
10. Ectrodactyly, ectodermal dysplasia, and clefting associated with thymic aplasia
11. Primary immunodeficiency diseases. Report of an IUIS Scientific Committee
12. Ectodermal dysplasia
13. Ectodermal dysplasia and immunodeficiency
14. Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium
15. Incontinentia pigmenti
16. Phosphorylation meets ubiquitination: The control of NF-κB activity
17. Complementation cloning of NEMO, a component of the IκB kinase complex essential for NF-κB activation
18. IKK-γ is an essential regulatory subunit of the IκB kinase complex
19. The IKK complex: An integrator of all signals that activate NF-κB?
20. Severe liver degeneration and lack of NF-κB activation in NEMO/IKKγ-deficient mice
21. NEMO/IKK γ-deficient mice model incontinentia pigmenti
22. Female mice heterozygous for IKK γ/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti
23. Characterization of a mutant cell line that does not activate NF-κB in response to multiple stimuli
24. Involvement of a novel TNF receptor homologue in hair follicle induction
25. The IL-1 receptor/toll-like receptor superfamily: Crucial receptors for inflammation and host defense
26. IL-12 synergizes with IL-18 or IL-1β for IFN-γ production from human T cells
27. Human tumor necrosis factor α gene regulation by virus and lipopolysaccharide
28. Genetic and physical mapping of the Lps locus: Identification of the toll-4 receptor as a candidate gene in the critical region
29. CD40-CD40 ligand
30. Activated human T cells express a ligand for the human B cell-associated antigen CD40 which participates in T cell-dependent activation of B lymphocytes
31. Cross-linking CD40 on B cells rapidly activates nuclear factor-κB
32. Ligation of CD40 on dendritic cells triggers production of high levels of interleukin-12 and enhances T cell stimulatory capacity: T-T help via APC activation
33. Hypohidrotic (anhidrotic) ectodermal dysplasia: Molecular genetic research and its clinical applications
34. Requirement for NF-κB in osteoclast and B-cell development
35. Tumor necrosis factor receptor family member RANK mediates osteoclast differentiation and activation induced by osteoprotegerin ligand
36. RANK is essential for osteoclast and lymph node development
37. Missense mutations interfere with VEGFR-3 signaling in primary lymphoedema
38. Innate immunity
39. Endotoxin and IL-1 hyporesponsiveness in a patient with recurrent bacterial infections
40. Toll-like receptor 4 (TLR4)-deficient mice are hyporesponsive to lipopolysaccharide: Evidence for TLR4 as the Lps gene product
41. Clinical spectrum of X-linked hyper-IgM syndrome
42. Differential roles of TLR2 and TLR4 in recognition of gram-negative and gram-positive bacterial cell wall components
43. Recognition of Gram-positive bacterial cell wall components by the innate immune system occurs via Toll-like receptor 2
44. IL-12 and IFN-γ in host defense against mycobacteria and Salmonella in mice and men
45. Human toll-like receptors mediate cellular activation by Mycobacterium tuberculosis
46. Toll-like receptor-2 mediates mycobacteria-induced proinflammatory signaling in macrophages
47. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-γ (NEMO)
48. Ectodermal dysplasia receptor activates the nuclear factor κ B, c-Jun N-terminal kinase and cell death pathways and binds to ectodysplasmin A
49. Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors