A case study was also conducted on a 14-year-old girl who presented with MS, immunodeficiency, enteropathy, splenomegaly, lymphadenopathy, and lymphocytic infiltration of non-lymphoid organs, as well as a confirmed heterozygous CTLA-4 mutation (c.208C>T, p.Arg70Trp). Here, CTLA4 is linked to myeloid sarcoma.