A male infant with anhidrotic ectodermal dysplasia/immunodeficiency accompanied by incontinentia pigmenti and a mutation in the NEMO pathway
Author:
Publisher
Elsevier BV
Subject
Dermatology
Reference8 articles.
1. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling;Doffinger;Nat Genet,2001
2. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology;Berlin;J Am Acad Dermatol,2002
3. Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations;Orange;J Clin Invest,2002
4. NF-kappaB signaling and human disease;Aradhya;Curr Opin Genet Dev,2001
5. TAB2, TRAF6 and TAK1 are involved in NF-kappaB activation induced by the TNF-receptor, Edar and its adaptator Edaradd;Morlon;Hum Mol Genet,2005
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1. Split Immunological Reconstitution in a NEMO-Deficient Male with Incontinentia Pigmenti and Immunodeficiency;Journal of Clinical Immunology;2023-07-11
2. Successful Allogeneic Stem Cell Transplantation in Nuclear Factor-Kappa B Essential Modulator Deficiency Syndrome After Treosulfan-Based Conditioning: A Case Report;Transplantation Proceedings;2020-03
3. Incontinentia pigmenti in boys: Causes and consequences;Annales de Dermatologie et de Vénéréologie;2020-03
4. Incontinentia pigmenti in a male (XY) infant with long-term follow up over 8 years;The Journal of Dermatology;2017-08-09
5. Defects in Intrinsic and Innate Immunity: Receptors and Signaling Components;Primary Immunodeficiency Diseases;2016-12-02
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