A novel compound heterozygous HAX1 mutation in a Chinese patient with severe congenital neutropenia and chronic myelomonocytic leukemia transformation but without neurodevelopmental abnormalities

Haematologica. 2012 Feb;97(2):318-20. doi: 10.3324/haematol.2011.055038. Epub 2011 Nov 18.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Asian People / genetics*
  • Congenital Bone Marrow Failure Syndromes
  • Humans
  • Leukemia, Myelomonocytic, Chronic / complications
  • Leukemia, Myelomonocytic, Chronic / diagnosis
  • Leukemia, Myelomonocytic, Chronic / genetics*
  • Male
  • Mutation
  • Nervous System Diseases / diagnosis
  • Nervous System Diseases / genetics*
  • Neutropenia / complications
  • Neutropenia / congenital*
  • Neutropenia / diagnosis
  • Neutropenia / genetics
  • Pedigree
  • Young Adult

Substances

  • Adaptor Proteins, Signal Transducing
  • HAX1 protein, human

Supplementary concepts

  • Neutropenia, Severe Congenital, Autosomal Recessive 3