Whole Genome Sequencing Reveals a Chromosome 9p Deletion Causing DOCK8 Deficiency in an Adult Diagnosed with Hyper IgE Syndrome Who Developed Progressive Multifocal Leukoencephalopathy

PURPOSE: A 30 year-old man with a history of recurrent skin infections as well as elevated serum IgE and eosinophils developed neurological symptoms and had T2-hyperintense lesions observed in cerebral MRI. The immune symptoms were attributed to Hyper IgE syndrome (HIES) and the neurological symptom...

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Detalles Bibliográficos
Autores principales: G. Day-Williams, Aaron, Sun, Chao, Jelcic, Ilijas, McLaughlin, Helen, Harris, Tim, Martin, Roland, Carulli, John P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2014
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306731/
https://www.ncbi.nlm.nih.gov/pubmed/25388448
http://dx.doi.org/10.1007/s10875-014-0114-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306731/
https://www.ncbi.nlm.nih.gov/pubmed/25388448
http://dx.doi.org/10.1007/s10875-014-0114-4

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