This condition is usually caused by mutations in the FAS gene. Rarely cases due to mutations in other genes including the FAS ligand gene have been reported. The disease is inherited in an autosomal dominant manner, but it shows incomplete penetrance with up to 40% of people with a FAS mutation not showing symptoms.
Autoimmune lymphoproliferative syndrome
Diffuse infiltrative lymphocytosis syndrome
Thymoma with immunodeficiency
Bare lymphocyte syndrome
X-linked lymphoproliferative disease
Thymoma-associated multiorgan autoimmunity
Adult-onset immunodeficiency syndrome
Epstein–Barr virus–associated lymphoproliferative diseases