title: Clinically focused exome sequencing identifies an homozygous mutation that confers DOCK8 deficiency.
authors.affiliation: 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.
authors.forename: Allison J
authors.initials: AJ
authors.lastname: Burbank
authors.affiliation: 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.
authors.forename: Shaili N
authors.initials: SN
authors.lastname: Shah
authors.affiliation: Mclendon Clinical Laboratory, UNC Hospitals, Chapel Hill, NC, USA.
authors.forename: Maureen
authors.initials: M
authors.lastname: Montgomery
authors.affiliation: Department of Pediatrics, Division of Rheumatology, Allergy, and Immunology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
authors.forename: David
authors.initials: D
authors.lastname: Peden
authors.affiliation: Departments of Medicine, Division of Rheumatology, Allergy and Immunology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. Teresa_tarrant@med.unc.edu.
authors.forename: Teresa K
authors.initials: TK
authors.lastname: Tarrant
authors.affiliation: Mclendon Clinical Laboratory, UNC Hospitals, Chapel Hill, NC, USA.|Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
authors.forename: Eric T
authors.initials: ET
authors.lastname: Weimer
mesh_terms: D000328:Adult; D019295:Computational Biology; D004252:DNA Mutational Analysis; D030541:Databases, Genetic; D059472:Exome; D005260:Female; D020022:Genetic Predisposition to Disease; D020662:Guanine Nucleotide Exchange Factors / Q000172:deficiency / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000276:immunology; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors