Human dendritic cell immunodeficiencies

Venetia Bigley, Urszula Cytlak, Matthew Collin

Research output: Contribution to journalReview articlepeer-review


The critical functions of dendritic cells (DCs) in immunity and tolerance have been demonstrated in many animal models but their non-redundant roles in humans are more difficult to probe. Human primary immunodeficiency (PID), resulting from single gene mutations, may result in DC deficiency or dysfunction. This relatively recent recognition illuminates the in vivo role of human DCs and the pathophysiology of the associated clinical syndromes. In this review, the development and function of DCs as established in murine models and human in vitro systems, discussed. This forms the basis of predicting the effects of DC deficiency in vivo and understanding the consequences of specific mutations on DC development and function. DC deficiency syndromes are associated with heterozygous GATA2 mutation, bi-allelic and heterozygous IRF8 mutation and heterozygous IKZF1 mutation. The intricate involvement of DCs in the balance between immunity and tolerance is leading to increased recognition of their involvement in a number of other immunodeficiencies and autoimmune conditions. Owing to the precise control of transcription factor gene expression by super-enhancer elements, phenotypic anomalies are relatively commonly caused by heterozygous mutations.

Original languageEnglish
Pages (from-to)50-61
Number of pages12
JournalSeminars in Cell and Developmental Biology
Early online date23 Feb 2018
Publication statusPublished - Feb 2019


  • Autoimmunity
  • Dendritic cells
  • GATA2
  • IKZF1
  • IRF8
  • Primary immunodeficiency

Research Beacons, Institutes and Platforms

  • Manchester Cancer Research Centre


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