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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 Allenspach
Published 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.
Keyphrases
  • interstitial lung disease
  • systemic sclerosis
  • bone marrow
  • rheumatoid arthritis
  • idiopathic pulmonary fibrosis
  • mesenchymal stem cells
  • replacement therapy
  • oxidative stress