Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ

Haematologica. 2019 Oct;104(10):e483-e486. doi: 10.3324/haematol.2018.208397. Epub 2019 May 9.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Class I Phosphatidylinositol 3-Kinases / deficiency*
  • Enterocolitis* / enzymology
  • Enterocolitis* / genetics
  • Enterocolitis* / pathology
  • Genes, Recessive*
  • Humans
  • Immunologic Deficiency Syndromes* / enzymology
  • Immunologic Deficiency Syndromes* / genetics
  • Immunologic Deficiency Syndromes* / pathology
  • Male
  • Purpura, Thrombocytopenic, Idiopathic* / enzymology
  • Purpura, Thrombocytopenic, Idiopathic* / genetics
  • Purpura, Thrombocytopenic, Idiopathic* / pathology

Substances

  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CD protein, human