Clinically focused exome sequencing identifies an homozygous mutation that confers DOCK8 deficiency.
作者信息
Burbank Allison J, Shah Shaili N, Montgomery Maureen, Peden David, Tarrant Teresa K, Weimer Eric T
机构信息
Departments of Medicine, Division of Rheumatology, Allergy and Immunology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Department of Pediatrics, Division of Rheumatology, Allergy, and Immunology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
出版信息
Pediatr Allergy Immunol. 2016 Feb;27(1):96-8. doi: 10.1111/pai.12451. Epub 2015 Oct 12.
Abstract
摘要
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1
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J Allergy Clin Immunol. 2015 Aug;136(2):402-12. doi: 10.1016/j.jaci.2014.12.1945. Epub 2015 Feb 25.
2
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Biol Blood Marrow Transplant. 2015 Jun;21(6):1037-45. doi: 10.1016/j.bbmt.2015.01.022. Epub 2015 Jan 27.
3
DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.
J Clin Immunol. 2015 Feb;35(2):189-98. doi: 10.1007/s10875-014-0126-0. Epub 2015 Jan 28.
4
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.
5
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J Allergy Clin Immunol. 2009 Dec;124(6):1289-302.e4. doi: 10.1016/j.jaci.2009.10.038.
6
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Nucleic Acids Res. 2009 May;37(9):e67. doi: 10.1093/nar/gkp215. Epub 2009 Apr 1.
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