Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa

Definition:

Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa (ILNEB) is a multiorgan disorder caused by mutations in ITGA3. ITGA3 encodes a transmembrane integrin receptor subunit that mediates signals between the cells and their microenvironment. Mutations in ITGA3 are associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin.

References:

[1]. Cristina Has, et al. Integrin α3 mutations with kidney, lung, and skin disease. N Engl J Med. 2012 Apr 19;366(16):1508-14. [Content Brief]

[2]. Ebru G Yalcin, et al. Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome. Hum Mol Genet. 2015 Jul 1;24(13):3679-88. [Content Brief]

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