Severe Congenital Neutropenia associated with SRP54 mutation in 22q11.2 Deletion Syndrome: Hematopoietic Stem Cell Transplantation Results in Correction of Neutropenia with Adequate Immune Reconstitution

J Clin Immunol. 2018 Jul;38(5):546-549. doi: 10.1007/s10875-018-0518-7. Epub 2018 Jun 29.
No abstract available

Publication types

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

MeSH terms

  • Biomarkers
  • Biopsy
  • Bone Marrow / pathology
  • DiGeorge Syndrome / diagnosis*
  • DiGeorge Syndrome / genetics*
  • DiGeorge Syndrome / therapy
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Hematopoietic Stem Cell Transplantation
  • Humans
  • Immune Reconstitution
  • Immunophenotyping
  • Infant, Newborn
  • Male
  • Mutation*
  • Neutropenia / congenital*
  • Neutropenia / diagnosis*
  • Neutrophils / metabolism
  • Neutrophils / pathology
  • Phenotype
  • Signal Recognition Particle / genetics*
  • Treatment Outcome

Substances

  • Biomarkers
  • SRP54 protein, human
  • Signal Recognition Particle