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Recent Advances in DOCK8 Immunodeficiency Syndrome

Journal of Clinical Immunology volume 36, pages 441–449 (2016)Cite this article

Abstract

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.

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Acknowledgments

This work was supported by the Intramural Research Program, NIH, National Institute of Allergy and Infectious Diseases. Data in Fig. 2 were generated after obtaining written informed consent from the patient on an NIAID IRB-approved research protocol.

Authorship Contributions

Q.Z. and H.C.S. prepared the figures and wrote the manuscript. H.J. performed experiments in Fig. 2.

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  1. Qian Zhang

    Present address: Division of Translational Medicine, Sidra Medical and Research Center, Doha, Qatar

Affiliations

  1. Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10CRC, Room 5-3940, 10 Center Dr., MSC 1456, Bethesda, MD, 20892-1456, USA

    Qian Zhang, Huie Jing & Helen C. Su

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Correspondence to Helen C. Su.

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Zhang, Q., Jing, H. & Su, H.C. Recent Advances in DOCK8 Immunodeficiency Syndrome. J Clin Immunol 36, 441–449 (2016). https://doi.org/10.1007/s10875-016-0296-z

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Keywords

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