Successful liver transplantation for homozygous protein C deficiency with a type II mutation using a heterozygous living related donor

Am J Hematol. 2018 Mar;93(3):462-466. doi: 10.1002/ajh.24998. Epub 2018 Jan 25.

Authors

Alexander A Boucher¹, Lori Luchtman-Jones¹, Jaimie D Nathan², Joseph S Palumbo¹

Affiliations

¹ Division of Hematology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center and the University of Cincinnati College of Medicine, Cincinnati, Ohio.
² Division of General & Thoracic Surgery, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

PMID: 29218739
DOI: 10.1002/ajh.24998

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Amino Acid Substitution*
Biopsy / adverse effects
Consanguinity
Female
Homozygote
Humans
Infant
Liver Transplantation*
Living Donors
Male
Mutation, Missense*
Protein C / genetics*
Protein C Deficiency / diagnosis
Protein C Deficiency / genetics
Protein C Deficiency / surgery*
Purpura Fulminans / etiology
Young Adult

Substances

Protein C

Supplementary concepts

Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Recessive