C201054Level 6
Autoimmune Lymphoproliferative Syndrome with Other Specified FAS Pathway Germline Mutation
**Semantic type:** Disease or Syndrome
**Definition:** Autoimmune lymphoproliferative syndrome characterized by the presence of FAS pathway germline mutations in the FASLG, CASP10, CASP8, and FADD genes.
**Synonyms:** - ALPS with Other Specified FAS Pathway Germline Mutation
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