A novel CD46 mutation in a patient with microangiopathy clinically resembling thrombotic thrombocytopenic purpura and normal ADAMTS13 activity

Haematologica. 2015 Mar;100(3):e87-9. doi: 10.3324/haematol.2014.111062. Epub 2014 Nov 7.
No abstract available

Keywords: TTP; complement abnormalities.

Publication types

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

MeSH terms

  • ADAM Proteins / genetics*
  • ADAM Proteins / immunology
  • ADAMTS13 Protein
  • Adult
  • Atypical Hemolytic Uremic Syndrome / diagnosis*
  • Atypical Hemolytic Uremic Syndrome / genetics
  • Atypical Hemolytic Uremic Syndrome / immunology
  • Base Sequence
  • Child
  • Complement Pathway, Alternative / genetics
  • Complement Pathway, Classical / genetics
  • Diagnosis, Differential
  • Female
  • Gene Expression
  • Heterozygote
  • Humans
  • Male
  • Membrane Cofactor Protein / genetics*
  • Membrane Cofactor Protein / immunology
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Purpura, Thrombotic Thrombocytopenic / diagnosis
  • Purpura, Thrombotic Thrombocytopenic / genetics
  • Purpura, Thrombotic Thrombocytopenic / immunology
  • von Willebrand Factor / genetics
  • von Willebrand Factor / immunology

Substances

  • CD46 protein, human
  • Membrane Cofactor Protein
  • von Willebrand Factor
  • ADAM Proteins
  • ADAMTS13 Protein
  • ADAMTS13 protein, human