Recent Advances in DOCK8 Immunodeficiency Syndrome

J Clin Immunol. 2016 Jul;36(5):441-9. doi: 10.1007/s10875-016-0296-z. Epub 2016 May 20.


Since the discovery of the genetic basis of DOCK8 immunodeficiency syndrome (DIDS) in 2009, several hundred patients worldwide have been reported, validating and extending the initial clinical descriptions. Importantly, the beneficial role of hematopoietic stem cell transplantation for this disease has emerged, providing impetus for improved diagnosis. Additionally, several groups have further elucidated the biological functions of DOCK8 in the immune system that help explain disease pathogenesis. Here, we summarize these recent developments.

Keywords: DOCK8; combined immunodeficiency; cutaneous virus infection; cytothripsis; eczema; food allergy; genetics; hematopoietic stem cell transplantation; hyperimmunoglobulinemia E syndrome; somatic reversion; tissue resident memory T cells (TRM).

Publication types

  • Review
  • Research Support, N.I.H., Intramural

MeSH terms

  • Animals
  • CD8-Positive T-Lymphocytes / immunology*
  • Guanine Nucleotide Exchange Factors / genetics*
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Immunologic Deficiency Syndromes / genetics
  • Immunologic Deficiency Syndromes / immunology*
  • Immunologic Deficiency Syndromes / therapy
  • Immunologic Memory
  • Lymphopenia
  • Mutation / genetics
  • Natural Killer T-Cells / immunology*


  • DOCK8 protein, human
  • Guanine Nucleotide Exchange Factors