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01-07-2021 | Incontinentia Pigmenti | Letter to Editor

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

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

Published in: Journal of Clinical Immunology | Issue 5/2021

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To the Editor, …

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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.

Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY, Kawai T, et al. Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations. Blood. 2017. https://doi.org/10.1182/blood-2017-03-771600.

Boisson B, Honda Y, Ajiro M, Bustamante J, Bendavid M, Gennery AR, et al. Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency. J Clin Invest. 2019;129(2):583–97. https://doi.org/10.1172/JCI124011.CrossRefPubMed

Peggs KS, Verfuerth S, Pizzey A, Khan N, Guiver M, Moss PA, et al. Adoptive cellular therapy for early cytomegalovirus infection after allogeneic stem-cell transplantation with virus-specific T-cell lines. The Lancet. 2003. https://doi.org/10.1016/S0140-6736(03)14634-X.

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

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.

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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Title: EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation
Authors: Coline Bret Puvilland
Bertrand Boisson
Mathieu Fusaro
Jacinta Bustamante
Yves Bertrand
Antony Ceraulo
Marie Ouachée-Chardin
Publication date: 01-07-2021
Publisher: Springer US
Keywords: Incontinentia Pigmenti
Graft-Versus-Host Disease
Graft-Versus-Host Disease
Published in: Journal of Clinical Immunology / Issue 5/2021
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-021-00992-x

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