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X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia
Patrick R Blackburn1, Wen-Lang Lin2, David A Miller3
1Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
Journal of Neuropathology and Experimental Neurology
|April 17, 2019
Summary
X-linked lymphoproliferative syndrome (XLP) typically presents in childhood. This study details a rare adult case, highlighting XLP
Area of Science:
- Immunology
- Genetics
- Neurology
Background:
- X-linked lymphoproliferative (XLP) syndrome is a rare primary immunodeficiency caused by SH2D1A gene variants.
- It is typically associated with Epstein-Barr virus infection and presents in early childhood with reduced life expectancy.
Observation:
- A 49-year-old man presented with central nervous system vasculitis unresponsive to treatment.
- His brothers had histories of aplastic anemia and diffuse large B-cell lymphoma.
Findings:
- Exome sequencing revealed a novel hemizygous SH2D1A variant (c.35G>T, p.Ser12Ile) in the patient and his brother.
- Functional analysis indicated decreased protein stability for the identified SH2D1A variant.
Implications:
- This case demonstrates the broad clinical heterogeneity of XLP and diagnostic challenges in adult presentations.
- It suggests a potential biphasic distribution of XLP, with some cases mimicking age-related malignancies and autoimmune diseases.
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