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

More general terms

• X-linked disease
• lymphoproliferative disorder

Database

• OMIM: https://mirror.omim.org/entry/308240
• OMIM: https://mirror.omim.org/entry/300635