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1
Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype.
J Allergy Clin Immunol. 2014 Jun;133(6):1667-75. doi: 10.1016/j.jaci.2014.03.025. Epub 2014 May 3.
2
Dedicator of cytokinesis 8-deficient CD4 T cells are biased to a T2 effector fate at the expense of T1 and T17 cells.
J Allergy Clin Immunol. 2017 Mar;139(3):933-949. doi: 10.1016/j.jaci.2016.07.016. Epub 2016 Aug 20.
3
Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes T17 cell differentiation.
J Allergy Clin Immunol. 2016 Nov;138(5):1384-1394.e2. doi: 10.1016/j.jaci.2016.04.023. Epub 2016 May 24.
4
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.
J Allergy Clin Immunol. 2015 Aug;136(2):402-12. doi: 10.1016/j.jaci.2014.12.1945. Epub 2015 Feb 25.
7
Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.
J Allergy Clin Immunol. 2013 Mar;131(3):840-8. doi: 10.1016/j.jaci.2012.12.1568. Epub 2013 Feb 4.
8
Lineage-Specific Chimerism and Outcome After Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency.
J Clin Immunol. 2021 Oct;41(7):1536-1548. doi: 10.1007/s10875-021-01069-5. Epub 2021 Jun 2.
9
Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis.
Clin Immunol. 2014 Feb;150(2):220-4. doi: 10.1016/j.clim.2013.12.006. Epub 2013 Dec 31.
10
Current Status of Dedicator of Cytokinesis-Associated Immunodeficiency: DOCK8 and DOCK2.
Dermatol Clin. 2017 Jan;35(1):11-19. doi: 10.1016/j.det.2016.07.002.

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1
Identifying genetic errors of immunity due to mosaicism.
J Exp Med. 2025 May 5;222(5). doi: 10.1084/jem.20241045. Epub 2025 Apr 15.
2
Somatic mosaicism in genetic errors of immunity.
J Allergy Clin Immunol. 2025 Mar;155(3):759-767. doi: 10.1016/j.jaci.2024.11.038. Epub 2024 Dec 24.
3
Hematopoietic cell transplantation for DOCK8 deficiency: Results from a prospective clinical trial.
J Allergy Clin Immunol. 2025 Jan;155(1):176-187. doi: 10.1016/j.jaci.2024.08.021. Epub 2024 Sep 2.
4
Insights into the pathogenesis of allergic disease from dedicator of cytokinesis 8 deficiency.
Curr Opin Immunol. 2023 Feb;80:102277. doi: 10.1016/j.coi.2022.102277. Epub 2022 Dec 9.
5
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Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes.
Biomedicines. 2022 Aug 29;10(9):2118. doi: 10.3390/biomedicines10092118.
7
Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.
Front Genet. 2022 Jul 25;13:920390. doi: 10.3389/fgene.2022.920390. eCollection 2022.
8
CRISPR/Cas-Based Gene Editing Strategies for DOCK8 Immunodeficiency Syndrome.
Front Genome Ed. 2022 Mar 17;4:793010. doi: 10.3389/fgeed.2022.793010. eCollection 2022.
9
Reversion Mosaicism in Primary Immunodeficiency Diseases.
Front Immunol. 2021 Nov 16;12:783022. doi: 10.3389/fimmu.2021.783022. eCollection 2021.
10
Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8.
J Clin Immunol. 2022 Jan;42(1):119-129. doi: 10.1007/s10875-021-01152-x. Epub 2021 Oct 17.

本文引用的文献

1
DOCK8 is critical for the survival and function of NKT cells.
Blood. 2013 Sep 19;122(12):2052-61. doi: 10.1182/blood-2013-02-482331. Epub 2013 Aug 8.
2
Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.
J Allergy Clin Immunol. 2013 Mar;131(3):840-8. doi: 10.1016/j.jaci.2012.12.1568. Epub 2013 Feb 4.
5
DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation.
Nat Immunol. 2012 May 13;13(6):612-20. doi: 10.1038/ni.2305.
7
Additional diverse findings expand the clinical presentation of DOCK8 deficiency.
J Clin Immunol. 2012 Aug;32(4):698-708. doi: 10.1007/s10875-012-9664-5. Epub 2012 Apr 4.
8
Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient.
J Clin Immunol. 2012 Aug;32(4):690-7. doi: 10.1007/s10875-012-9684-1. Epub 2012 Mar 30.
9
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.
Am J Hum Genet. 2012 Mar 9;90(3):426-33. doi: 10.1016/j.ajhg.2012.01.004. Epub 2012 Feb 16.
10
Successful bone marrow transplantation for DOCK8 deficient hyper IgE syndrome.
Pediatr Transplant. 2012 Jun;16(4):398-9. doi: 10.1111/j.1399-3046.2011.01641.x. Epub 2012 Jan 17.

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