autoimmune lymphoproliferative syndrome type 1B (ALPS1B, Canale-Smith syndrome, CSS)

Genetics

• associated with defects in FasL gene
• defects in FASL are the cause of autoimmune lymphoproliferative syndrome type 1B (ALPS1B)

Clinical manifestations

• childhood syndrome
• hemolytic anemia & thrombocytopenia
• massive lymphadenopathy
• splenomegaly

Laboratory

• complete blood count
  • hemolytic anemia
  • thrombocytopenia
• reticulocytes may be elevated with hemolysis
• haptoglobin may be depressed with hemolysis
• peripheral blood smear for evidence of hemolysis
• direct antiglobulin test

More general terms

• autoimmune lymphoproliferative syndrome)

Database

• OMIM: https://mirror.omim.org/entry/601859
• OMIM: https://mirror.omim.org/entry/152700
• OMIM: https://mirror.omim.org/entry/134638