article_metadata: Aaron G Day-Williams Chao Sun Ilijas Jelcic Helen McLaughlin Tim Harris Roland Martin John P Carulli
article_metadata: 10.1007/s10875-014-0114-4
article_metadata: J Clin Immunol
article_metadata: 2015 Jan;35(1):92-6.
article_metadata: dock8 deficiency hyper ige syndrome jc virus progressive multifocal leukoencephalopathy (pml) primary immune deficiency
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/25388448/
article_metadata: Guanine Nucleotide Exchange Factors / deficiency Guanine Nucleotide Exchange Factors / genetics Job Syndrome / genetics Job Syndrome / immunology Leukoencephalopathy, Progressive Multifocal / genetics Leukoencephalopathy, Progressive Multifocal / immunology
article_metadata: Guanine Nucleotide Exchange Factors / deficiency Guanine Nucleotide Exchange Factors / genetics Job Syndrome / genetics Job Syndrome / immunology Leukoencephalopathy, Progressive Multifocal / genetics Leukoencephalopathy, Progressive Multifocal / immunology Case Reports Adult Chromosome Deletion Chromosomes, Human, Pair 9 / genetics Chromosomes, Human, Pair 9 / immunology DNA Mutational Analysis Gene Deletion Homozygote Humans Male Telomere / genetics DOCK8 protein, human Guanine Nucleotide Exchange Factors Chromosome 9p Deletion Syndrome
article_metadata: PMC4306731
article_metadata: 25388448
article_metadata: Whole Genome Sequencing Reveals a Chromosome 9p Deletion Causing DOCK8 Deficiency in an Adult Diagnosed with Hyper IgE Syndrome Who Developed Progressive Multifocal Leukoencephalopathy
article_metadata: 2015