First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

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.

OriginalsprogEngelsk
Artikelnummer104335
TidsskriftEuropean Journal of Medical Genetics
Vol/bind64
Udgave nummer11
ISSN1769-7212
DOI
StatusUdgivet - 2021

Bibliografisk note

Funding Information:
This project was supported by the National Institute for Health Research (NIHR) Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London . The views expressed are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health. This paper is dedicated to the memory of O.A.T.H.

Publisher Copyright:
© 2021 The Authors

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