Thus, the patient was diagnosed with ADA2 deficiency based on the combination of the clinical picture: cutaneous manifestations (livedo, aphthae), musculoarticular manifestations (arthritis), gastrointestinal manifestations (hepatosplenomegaly, intestinal perforation, possible pancreatitis), hematological manifestation (hypogammaglobulinemia, neutropenia) associated with recurrent fever and inflammatory syndrome and the biallelic mutation of ADA2. The gene discussed is ADA2; the disease is Arthritis.