Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares.
Alice S ChauBonnie L ColeJason S DebleyKabita NandaAaron B I RosenMichael J BamshadDeborah A NickersonTroy R TorgersonEric J AllenspachPublished in: Pediatric rheumatology online journal (2020)
Here, we describe a phenotype expansion for HMOX1-deficiency to include not only asplenia and hepatomegaly, but also interstitial lung disease with cholesterol granulomas and inflammatory flares with hemophagocytosis present in the bone marrow.