AI Article Synopsis
- ILNEB syndrome is a rare genetic condition characterized by interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, caused by mutations in the ITGA3 gene.
- Out of 11 diagnosed patients, 7 have died in infancy or early childhood, highlighting the syndrome's severe prognosis.
- The case report focuses on the only known survivor past adolescence, who benefited from a double lung transplant and exhibited additional symptoms not previously documented in other patients with ILNEB syndrome.
Article Abstract
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.
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| http://dx.doi.org/10.1016/j.ejmg.2021.104335 | DOI Listing |
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Article Synopsis
- ILNEB syndrome is a rare genetic condition characterized by interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, caused by mutations in the ITGA3 gene.
- Out of 11 diagnosed patients, 7 have died in infancy or early childhood, highlighting the syndrome's severe prognosis.
- The case report focuses on the only known survivor past adolescence, who benefited from a double lung transplant and exhibited additional symptoms not previously documented in other patients with ILNEB syndrome.
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