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Erschienen in: Journal of Clinical Immunology 5/2021

17.02.2021 | Letter to Editor

EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation

verfasst von: Coline Bret Puvilland, Bertrand Boisson, Mathieu Fusaro, Jacinta Bustamante, Yves Bertrand, Antony Ceraulo, Marie Ouachée-Chardin

Erschienen in: Journal of Clinical Immunology | Ausgabe 5/2021

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Excerpt

To the Editor, …
Anhänge
Nur mit Berechtigung zugänglich
Literatur
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Zurück zum Zitat Döffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israël A, Courtois G, Casanova JL X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling. Nat Genet. mars 2001; https://doi.org/10.1038/85837. Döffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israël A, Courtois G, Casanova JL X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling. Nat Genet. mars 2001; https://​doi.​org/​10.​1038/​85837.
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Zurück zum Zitat Fusco F, Pescatore A, Conte MI, Mirabelli P, Paciolla M, Esposito E, et al. EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation. Int Rev Immunol. 2015;34(6):445–59.CrossRef Fusco F, Pescatore A, Conte MI, Mirabelli P, Paciolla M, Esposito E, et al. EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation. Int Rev Immunol. 2015;34(6):445–59.CrossRef
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Zurück zum Zitat Gibson DC, Couser NL, King KB. Co-occurrence of incontinentia pigmenti and down syndrome: examining patients’ potential susceptibility to autoimmune disease, autoinflammatory disease, cancer, and significant ocular disease. Ophthalmic Genet. Taylor & Francis. 2020:1–4. https://doi.org/10.1080/13816810.2020.1839917. Gibson DC, Couser NL, King KB. Co-occurrence of incontinentia pigmenti and down syndrome: examining patients’ potential susceptibility to autoimmune disease, autoinflammatory disease, cancer, and significant ocular disease. Ophthalmic Genet. Taylor & Francis. 2020:1–4. https://​doi.​org/​10.​1080/​13816810.​2020.​1839917.
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Zurück zum Zitat Elsarraj HS, Valdez KE, Hong Y, Grimm SL, Ricci LR, Fan F, et al. NEMO, a transcriptional target of estrogen and progesterone, is linked to tumor suppressor PML in breast cancer. Cancer Res 15. 2017;77(14):3802–13.CrossRef Elsarraj HS, Valdez KE, Hong Y, Grimm SL, Ricci LR, Fan F, et al. NEMO, a transcriptional target of estrogen and progesterone, is linked to tumor suppressor PML in breast cancer. Cancer Res 15. 2017;77(14):3802–13.CrossRef
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Zurück zum Zitat Hanson EP, Monaco-Shawver L, Solt LA, Madge LA, Banerjee PP, May MJ, et al. Hypomorphic nuclear factor-κB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol. Elsevier. 2008;122(6):1169–1177.e16.CrossRef Hanson EP, Monaco-Shawver L, Solt LA, Madge LA, Banerjee PP, May MJ, et al. Hypomorphic nuclear factor-κB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol. Elsevier. 2008;122(6):1169–1177.e16.CrossRef
Metadaten
Titel
EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation
verfasst von
Coline Bret Puvilland
Bertrand Boisson
Mathieu Fusaro
Jacinta Bustamante
Yves Bertrand
Antony Ceraulo
Marie Ouachée-Chardin
Publikationsdatum
17.02.2021
Verlag
Springer US
Erschienen in
Journal of Clinical Immunology / Ausgabe 5/2021
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-021-00992-x

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