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

Recent Advances in DOCK8 Immunodeficiency Syndrome.

Author information

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.
2
Division of Translational Medicine, Sidra Medical and Research Center, Doha, Qatar.
3
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. hsu@niaid.nih.gov.

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.

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)

PMID:
27207373
PMCID:
PMC4914394
DOI:
10.1007/s10875-016-0296-z
[Indexed for MEDLINE]
Free PMC Article

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