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X-linked lymphoproliferative syndrome (Duncan disease)
Epidemiology:
- rare
Pathology:
- immunodeficiency
Genetics:
- associated with defects in SH2D1A (type 1)
- associated with defects in XIAP (type 2)
Clinical manifestations:
- extreme susceptibility to infection with Epstein-Barr virus (EBV)
- severe or fatal mononucleosis
- malignant lymphoma
Laboratory:
- serum protein electrophoresis hypogammaglobulinemia (acquired)
- complete blood count (CBC): pancytopenia
General
X-linked disease
lymphoproliferative disorder
Database Correlations
OMIM correlations
References
OMIM :accession 300635