ALPS1B
ALPS1A MIM.601859
Descriptif : autosomal recessive autoimmune lymphoproliferative syndrome type 1B
Pathology
ALPS type IB is caused by mutation in gene TNFSF6 coding for the FAS ligand (FASL) gene (CD95L) (MIM.134638)
References
Siegel RM, et al: The multifaceted role of Fas signaling in immune cell homeostasis and autoimmunity. Nat Immunol 1:469, 2000.