Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares

Alice S. Chau, Bonnie L. Cole, Jason S. Debley, , Aaron B. I. Rosen, Michael J. Bamshad, Deborah A. Nickerson, Troy R. Torgerson & Eric J. Allenspach
Abstract Background Heme oxygenase-1 (HMOX1) catalyzes the metabolism of heme into carbon monoxide, ferrous iron, and biliverdin. Through biliverdin reductase, biliverdin becomes bilirubin. HMOX1-deficiency is a rare autosomal recessive disorder with hallmark features of direct antibody negative hemolytic anemia with normal bilirubin, hyperinflammation and features similar to macrophage activation syndrome. Clinical findings have included asplenia, nephritis, hepatitis, and vasculitis. Pulmonary features and evaluation of the immune response have been limited. Case presentation We present a...
This data repository is not currently reporting usage information. For information on how your repository can submit usage information, please see our documentation.