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Rigshospitalet - a part of Copenhagen University Hospital
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First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood

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Interstitial Lung disease, Nephrotic syndrome and Epidermolysis Bullosa, also referred to as ILNEB syndrome is an extremely rare autosomal recessive condition, caused by pathogenic variants in ITGA3. 11 patients have previously been diagnosed with ILNEB syndrome of whom 7 died in infancy or early childhood. We report the only patient with ILNEB syndrome who survived past adolescence, partly due to a double lung transplant. Additionally, our patient showed oral, nasal and gynecological symptoms not previously reported in patients with ILNEB syndrome.

Original languageEnglish
Article number104335
JournalEuropean Journal of Medical Genetics
Volume64
Issue number11
Pages (from-to)104335
ISSN1769-7212
DOIs
Publication statusPublished - Nov 2021

Bibliographical note

Copyright © 2021 The Authors. Published by Elsevier Masson SAS.. All rights reserved.

    Research areas

  • Epidermolysis Bullosa, ILNEB, Interstitial Lung Disease, Lung transplantation, Nephrotic syndrome

ID: 67847510