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Diamond-Blackfan like anemia and idiopathic very early onset severe colitis cured by allogeneic hematopoetic stem cell transplantation.
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  • Karin Bækgaard Nissen,
  • Tania Nicole Masmas,
  • Rasmus Gaardskær Nielsen,
  • Mette Christiansen,
  • Marcin Wlodarski,
  • Henrik Hasle
Karin Bækgaard Nissen
Aarhus Universitetshospital

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Tania Nicole Masmas
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Rasmus Gaardskær Nielsen
Odense Universitetshospital
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Mette Christiansen
Aarhus Universitetshospital
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Marcin Wlodarski
St Jude Children's Research Hospital Department of Oncology
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Henrik Hasle
Aarhus Universitetshospital
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Diamond-Blackfan anemia (DBA) is a rare congenital erythroid hypoplasia. An association with very early onset inflammatory bowel disease (VEO-IBD) has only been reported a few times. We report a Caucasian boy with a transfusion-dependent DBA phenotype from birth and severe ulcerative pancolitis from 10 months of age. He underwent successful allogeneic hematopoietic stem cell transplantation (HSCT) at 2 years of age. On follow-up 8 years old, he had normal bone marrow function and no bowel symptoms. HSCT was curative for both DBA and VEO-IBD. The underlying course of DBA and pancolitis remains elusive.