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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.



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