Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions

J Clin Immunol. 2020 Jan;40(1):227-231. doi: 10.1007/s10875-019-00693-6. Epub 2019 Nov 9.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Humans
  • Immunoglobulins, Intravenous / administration & dosage*
  • Male
  • Mutation / genetics*
  • Phosphoglucomutase / genetics*
  • Primary Immunodeficiency Diseases / drug therapy*
  • Primary Immunodeficiency Diseases / genetics*
  • Thailand

Substances

  • Immunoglobulins, Intravenous
  • PGM3 protein, human
  • Phosphoglucomutase