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Human dendritic cell immunodeficiencies.

Venetia Bigley1, Urszula Cytlak2, Matthew Collin1

  • 1Human DC Lab, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK; Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

Seminars in Cell & Developmental Biology
|February 17, 2018
PubMed
Summary
This summary is machine-generated.

Human primary immunodeficiencies reveal critical roles for dendritic cells (DCs) in immunity. Understanding DC dysfunction in these genetic disorders offers insights into immune balance and autoimmune conditions.

Keywords:
AutoimmunityDendritic cellsGATA2IKZF1IRF8Primary immunodeficiency

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Area of Science:

  • Immunology
  • Genetics

Background:

  • Dendritic cells (DCs) are crucial for immunity and tolerance, but their specific roles in humans are challenging to study.
  • Human primary immunodeficiencies (PIDs), caused by gene mutations, provide a unique window into DC function and deficiency in vivo.
  • Previous research primarily utilized animal models and in vitro systems to understand DC development and function.

Purpose of the Study:

  • To review the development and function of dendritic cells (DCs) based on murine models and human in vitro studies.
  • To elucidate the in vivo roles of human DCs and the pathophysiology of clinical syndromes associated with DC deficiency or dysfunction.
  • To understand the impact of specific gene mutations on DC development and function.

Main Methods:

  • Review of existing literature on dendritic cell (DC) development and function in murine models and human in vitro systems.
  • Analysis of human primary immunodeficiencies (PIDs) resulting from single gene mutations leading to DC deficiency or dysfunction.
  • Correlation of genetic mutations with observed DC phenotypes and clinical manifestations.

Main Results:

  • DC deficiency syndromes are linked to specific genetic mutations, including heterozygous GATA2, bi-allelic and heterozygous IRF8, and heterozygous IKZF1.
  • Understanding DC roles in PIDs illuminates their in vivo functions and the pathophysiology of associated clinical conditions.
  • Heterozygous mutations in transcription factor genes, often controlled by super-enhancers, are frequently associated with DC phenotypic anomalies.

Conclusions:

  • Human primary immunodeficiencies offer critical insights into the non-redundant roles of dendritic cells (DCs) in immunity and tolerance.
  • Specific genetic mutations directly impact DC development and function, leading to distinct clinical syndromes.
  • DCs are increasingly recognized for their involvement in a broader spectrum of immunodeficiencies and autoimmune conditions due to their intricate role in immune balance.