JOURNAL ARTICLE

Novel NFKBIA variant causing autosomal ectodermal dysplasia with immunodeficiency.

  • Published In: Journal of the European Academy of Dermatology & Venereology, 2026, v. 40, n. 1. P. e14 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: López Sanz, Pablo; Gianelli, Carla; Zozaya Nieto, Carlos; Escribano Palomino, Esperanza; del Pino Molina, Lucía; Rodríguez Pena, Rebeca; Miguel Berenguel, Laura; Sánchez Garrido, Brenda; Sobral Costas, Tristán Gabriel; de Lucas Laguna, Raúl; Ruiz, Elena; Cámara Hijón, Carmen; López‐Granados, Eduardo; Bravo García‐Morato, María; Feito Rodríguez, Marta 3 of 3

Abstract

The article focuses on a case study of a newborn girl with a novel probably pathogenic variant in the NFKBIA gene, which is associated with autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). The patient exhibited severe clinical symptoms, including respiratory distress, cholestasis, and skin lesions, and ultimately succumbed to Klebsiella pneumoniae sepsis at three months of age. Molecular studies indicated impaired NF-κB signaling and immune response, suggesting a dominant-negative effect of the variant on immune function. The study highlights the challenges in estimating recurrence risk for future offspring due to the complexities of gonadosomatic mosaicism observed in the parents, both of whom had juvenile idiopathic arthritis (JIA). [Extracted from the article]

Additional Information

  • Source:Journal of the European Academy of Dermatology & Venereology. 2026/01, Vol. 40, Issue 1, pe14
  • Document Type:Article
  • Subject Area:Health and Medicine
  • Publication Date:2026
  • ISSN:0926-9959
  • DOI:10.1111/jdv.20712
  • Accession Number:190444400
  • Copyright Statement:Copyright of Journal of the European Academy of Dermatology & Venereology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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