Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation

J Allergy Clin Immunol. 2017 Dec;140(6):1721-1724. doi: 10.1016/j.jaci.2017.05.039. Epub 2017 Jun 19.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Infant
  • Lymphocyte Activation
  • Lymphohistiocytosis, Hemophagocytic / genetics*
  • Male
  • Mutation
  • ORAI1 Protein / genetics*

Substances

  • ORAI1 Protein
  • ORAI1 protein, human