Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome

Br J Haematol. 2020 May;189(4):e171-e174. doi: 10.1111/bjh.16585. Epub 2020 Mar 20.
No abstract available

Keywords: SRP54; Shwachman-Diamond syndrome; inborn error of immunity; severe congenital neutropenia.

Publication types

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

MeSH terms

  • Bone Marrow / metabolism*
  • Child, Preschool
  • Humans
  • Male
  • Mutation
  • Neutrophils / metabolism*
  • Shwachman-Diamond Syndrome / genetics*
  • Signal Recognition Particle / genetics*

Substances

  • SRP54 protein, human
  • Signal Recognition Particle