Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype

Blood Adv. 2018 Jan 23;2(2):120-125. doi: 10.1182/bloodadvances.2017012682.

Abstract

  1. Success of hematopoietic stem cell transplantation for MIRAGE syndrome may be limited by syndrome-specific comorbidities.

  1. SAMD9 mutations associated with MIRAGE syndrome are a newly described cause of congenital amegakaryocytic thrombocytopenia.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Bone Marrow Diseases / mortality
  • Bone Marrow Diseases / pathology
  • Bone Marrow Diseases / therapy*
  • Congenital Bone Marrow Failure Syndromes
  • Female
  • Hematopoietic Stem Cell Transplantation / methods*
  • Humans
  • Infant
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Mutation
  • Myelodysplastic Syndromes / mortality
  • Myelodysplastic Syndromes / therapy*
  • Phenotype
  • Prognosis
  • Proteins / genetics*
  • Syndrome
  • Thrombocytopenia / genetics*
  • Thrombocytopenia / mortality
  • Treatment Outcome

Substances

  • Intracellular Signaling Peptides and Proteins
  • Proteins
  • SAMD9 protein, human

Supplementary concepts

  • Congenital amegakaryocytic thrombocytopenia