Delayed Presentation of Respiratory Symptoms and Prolonged Survival in Homozygous α3 Integrin Deficiency

Skin fragility, renal malformation and interstitial lung disease due to compound heterozygousITGA3 mutations

“…Dear Editors, Integrin α3 (ITGA3) gene mutations have recently been associated with a rare autosomal recessive, syndromic epidermolysis bullosa subtype comprising congenital nephrotic syndrome and interstitial lung disease (ILNEB syndrome, OMIM#614748) [1]. To the best of our knowledge, ten unrelated patients and a pair of siblings with ILNEB syndrome carrying mutations in the ITGA3 gene have been reported in the literature [1][2][3][4][5][6][7][8].…”