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

By R. Döffinger, A. Smahi, C. Bessia, F. Geissmann, J. Feinberg, A. Durandy, C. Bodemer, S. Kenwrick, S. Dupuis-Girod, S. Blanche and 18 more. Nature Genetics, 2001

737 citations recorded by the source corpus.

Subfields: Cancer Research, Immunology, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/7ae073e35b4b960b42c6e18d46216f84df413110

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In Cancer Research

1. T. Mogensen
2. Joseph A. DiDonato
3. F. Mercurio
4. V. Dixit
5. Ivan Dikic
6. K. Newton
7. A. Israël
8. M. Karin

In Immunology

1. Ivan Dikic
2. D. Komander
3. T. Mogensen
4. Joseph A. DiDonato
5. F. Mercurio
6. V. Dixit
7. K. Newton
8. M. Karin

In Molecular Biology

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3. T. Mogensen
4. K. Alitalo
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6. Joseph A. DiDonato
7. F. Mercurio
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Citations in the corpus

• Signaling in innate immunity and inflammation. (2012, background): “The importance of IKKg binding to polyubiquitin is supported by the identification of mutations in the UBAN domain that impair NF-kB activation and cause immunodeficiency in humans (Table 2) (Döffinger et al. 2001).”
• The IKK complex, a central regulator of NF-kappaB activation. (2010, background): “This pathology, anhidrotic EDA-ID (also known as HED-ID, OMIM # 300291), associates the previously known symptoms of EDA (absence of sweat glands, sparce scalp hair, and missing teeth) with immunodeficiency (Doffinger et al. 2001).”
• Pathogen Recognition and Inflammatory Signaling in Innate Immune Defenses (2009, background): “nent of the IKK complex, and resulting in impaired NF- B signaling (78).”
• Specific recognition of linear ubiquitin chains by NEMO is important for NF-kappaB activation. (2009, background): “Several studies have identified mutations in the UBAN motif in patients suffering from anhidrotic ectodermal dysplasia and immunodeficiency (Döffinger et al., 2001; Filipe-Santos et al., Cell 136, 1098–1109, March 20, 2009 ª2009 Elsevier Inc. 1105 1106 Cell 136, 1098–1109, March 20, 2009 ª2009…”
• Lymphangiogenesis: Molecular mechanisms and future promise. (2010, background): “…regulatory protein NEMO associate with a rare and complex syndrome Cell 140, February 19, 2010 ©2010 Elsevier Inc. 471 involving lymphedema (anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema, OL-EDA- ID, OMIM #300301) (Döffinger et al., 2001; Saban et al., 2004).”