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