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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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.
Q.Z. and H.C.S. prepared the figures and wrote the manuscript. H.J. performed experiments in Fig. 2.
Conflict of Interest
The authors declare that they have no competing interests.
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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