ITGB (Integrin subunit beta) 3 mutation involved in pulmonary hemorrhage and osteopetrosis

We report on a previously healthy infant who presented with pulmonary hemorrhage due to a rare hematologic disorder. He also had imaging and laboratory studies suggestive of osteopetrosis. A genetic testing uncovered a previously known integrin gene possibly involving both hematologic and bone tissues; however, the latter has been described only in mouse models.

Source: Respiratory Medicine Case Reports - February 17, 2019 Category: Respiratory Medicine Source Type: research