A new mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein
نویسندگان
چکیده
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, U980, Necker Branch, 75015 Paris, France, EU; University Paris Descartes, Necker Medical School, 75015 Paris, France, EU; 3 Institut Pasteur, Unit of Structural and Cellular Biochemistry, Centre National de la Recherche Scientifique, Unité de Recherche Associée, URA 2185, 75015 Paris, France, EU ; Pediatric Infectious Diseases, Children’s Hospitals and Clinics Minnesota, Minneapolis, MN 55404, USA; Dermatology Unit, Necker Hospital, 75015 Paris, France, EU; Department of Infectious Diseases, Pointe-a-Pitre Abymes Hospital, Guadeloupe 97159, France; Department of Pediatrics and Angelo Nocivelli Institute for Molecular Medicine, University of Brescia, 25121 Brescia, Italy, EU; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Center for the Study of Primary Immunodeficiencies, Assistance PubliqueHôpitaux de Paris, Necker Hospital, 75015 Paris, France, EU; Pediatric Hematology-Immunology Unit, Necker Hospital, 75015 Paris, France, EU; Normal and Pathological Development of the Immune System, U768, Necker Hospital, 75015 Paris, France, EU; Molecular Signaling and Cellular Activation Unit, Unité de Recherche Associée, URA 2582, Centre National de la Recherche Scientifique, Pasteur Institute, 75015, Paris, France, EU
منابع مشابه
New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.
Nuclear factor-κB essential modulator (NEMO), the regulatory subunit of the IκB kinase complex, is a critical component of the NF-κB pathway. Hypomorphic mutations in the X-linked human NEMO gene cause various forms of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). All known X-linked EDA-ID-causing mutations impair NEMO protein expression, folding, or both. We describe here 2 E...
متن کاملAnhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO.
Anhidrotic (hypohidrotic) ectodermal dysplasia associated with immunodeficiency (EDA-ID; OMIM 300291) is a newly recognised primary immunodeficiency caused by mutations in NEMO, the gene encoding nuclear factor kappaB (NF-kappaB) essential modulator, NEMO, or inhibitor of kappaB kinase (IKK-gamma). This protein is essential for activation of the transcription factor NF-kappaB, which plays an im...
متن کاملFrequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.
Somatic mosaicism has been described in several primary immunodeficiency diseases and causes modified phenotypes in affected patients. X-linked anhidrotic ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by hypomorphic mutations in the NF-κB essential modulator (NEMO) gene and manifests clinically in various ways. We have previously reported a case of XL-EDA-ID with somatic mosa...
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Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is characterized according to its various manifestations, which include ectodermal dysplasia, vascular anomalies, osteopetrosis, and diverse immunological abnormalities such as susceptibility to pathogens, impaired antibody responses to polysaccharides, hypogammaglobulinemia, hyper-IgM syndrome, impaired natural killer cell cytotoxi...
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The Journal of Clinical Investigation | October 2003 | Volume 112 | Number 7 Introduction Patients with anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) present with impaired development of skin appendices, resulting in sparse hair, conical teeth, and anhidrosis/hypohidrosis. Host defense is also impaired, resulting principally in multiple and severe bacterial diseases (1). X-link...
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