ALPS1A
MIM.601859
autosomal recessive autoimmune lymphoproliferative syndrome type 1A
Etiology
germline mutations in the gene TNFRSF6 coding for the protein FAS (CD95)
References
Siegel RM, et al: The multifaceted role of Fas signaling in immune cell homeostasis and autoimmunity. Nat Immunol 1:469, 2000.