Table 2.
Diagnosis | Definition |
---|---|
ALPS-FAS | Meets clinical criteria for ALPS plus germline FAS mutation |
ALPS-sFAS | Meets clinical criteria for ALPS plus somatic FAS mutation |
ALPS-FASL | Meets clinical criteria for ALPS plus germline FASL mutation |
ALPS-CASP10 | Meets clinical criteria for ALPS plus germline CASP10 mutation |
ALPS-U | Meets clinical criteria for ALPS but no detected genetic lesion |
Abbreviations: ALPS, autoimmune lymphoproliferative syndrome; FAS, first apoptosis signal receptor; FASL, first apoptosis signal receptor ligand; CASP10, caspase 10.
According to the revised 2010 criteria.