title: Recent Advances in DOCK8 Immunodeficiency Syndrome.
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.
authors.affiliation: 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.|Division of Translational Medicine, Sidra Medical and Research Center, Doha, Qatar.
authors.forename: Qian
authors.initials: Q
authors.lastname: Zhang
authors.affiliation: 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.
authors.forename: Huie
authors.initials: H
authors.lastname: Jing
authors.affiliation: 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.
authors.forename: Helen C
authors.initials: HC
authors.lastname: Su
mesh_terms: D000818:Animals; D018414:CD8-Positive T-Lymphocytes / Q000276:immunology*; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000276:immunology* / Q000628:therapy; D007156:Immunologic Memory; D008231:Lymphopenia; D009154:Mutation / Q000235:genetics; D055611:Natural Killer T-Cells / Q000276:immunology*
chemical_list: C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors
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)