An ITGB4 variant modifies the severity of ITGA3-associated interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa (ILNEB).

J Invest DermatolJun 12, 2026 (epub)
Case ReportMedical GeneticsDermatologyPulmonologyNephrology

Lubna Gazi Khair, Ofer Sarig, Rawaa Fayez Ishtewy et al.

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Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the abstract

Biallelic ITGA3 variants cause a rare subtype of junctional epidermolysis bullosa named interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa is characterized by extensive clinical heterogeneity, suggesting the existence of modifier genes.

Source

PubMed · PMID 42285338

Published in J Invest Dermatol. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

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