X-Linked Lymphoproliferative Syndrome

X-Linked Lymphoproliferative Syndrome
Updated: 08/17/2020
© Jun Wang, MD, PhD

General features
  • Rare
  • X-linked
  • Predilection for Epstein-Barr virus infections  
  • Markedly increased risk for B-cell lymphoma
Clinical presentations
  • Median age of onset: 3-5 years
  • Variable, including

Genetic abnormality
  • Mutation of SH2D1A
Pathogenesis
  • Defective lymphocytic activation
  • Sustained T cell proliferation
  • Inability to eliminate EBV-infected B-cells
Morphological features
Managements
  • Stem cell transplantation
  • Immunoglobulin replacement


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Contents

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Anemia

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Lymphoid neoplasms

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