X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia

Pathogenic hemizygous variants in the SH2D1A gene cause X-linked lymphoproliferative (XLP) syndrome, a rare primary immunodeficiency usually associated with fatal Epstein-Barr virus infection. Disease onset is typically in early childhood, and the average life expectancy of affected males is ∼11 yea...

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Bibliografiska uppgifter
I publikationen:J Neuropathol Exp Neurol
Huvudupphovsmän: Blackburn, Patrick R, Lin, Wen-Lang, Miller, David A, Lorenzo-Betancor, Oswaldo, Edwards, Emily S, Zimmermann, Michael T, Farrugia, Luca P, Freeman, William D, Soto, Alexandra I, Walton, Ronald L, Klee, Eric W, Atwal, Paldeep S, Abraham, Roshini S, Billadeau, Daniel D, Ross, Owen A, Dickson, Dennis W, Meschia, James F
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2019
Ämnen:
Brief Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6467195/
https://ncbi.nlm.nih.gov/pubmed/30990878
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/jnen/nlz018
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