Unusual phenotype of heterozygous LOF mutation in IKZF1, with common variable immunodeficiency presenting initially as immune thrombocytopenia: A case report

J Paediatr Child Health. 2022 Dec;58(12):2308-2311. doi: 10.1111/jpc.16162. Epub 2022 Aug 18.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Common Variable Immunodeficiency* / complications
  • Common Variable Immunodeficiency* / diagnosis
  • Common Variable Immunodeficiency* / genetics
  • Heterozygote
  • Humans
  • Ikaros Transcription Factor / genetics
  • Mutation
  • Phenotype
  • Purpura, Thrombocytopenic, Idiopathic* / diagnosis
  • Purpura, Thrombocytopenic, Idiopathic* / genetics
  • Thrombocytopenia*

Substances

  • IKZF1 protein, human
  • Ikaros Transcription Factor