has material basis in germline mutation in POLE hereditary disease facial dysmorphism-immunodeficiency-livedo-short stature syndrome https://www.malacards.org/card/facial_dysmorphism_immunodeficiency_livedo_and_short_stature MONDO:0014058 facial dysmorphism, immunodeficiency, livedo, and short stature Orphanet:352712 GARD:0017528 OMIM:615139 fils syndrome UMLS:C3554576 fils A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyzes show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer. MEDGEN:767490