He is still on insulin and supportive therapy (for orthopedic complications and autoimmune hepatitis) at the age of 14.5 years. Similarly, another unrelated patient diagnosed at 15 months of age showed elevated transaminase levels, persistent hyperkalemia, thrombocytopenia, and skeletal dysplasia after two years and was also found to be homozygous for an EIF2AK3 mutation (patient 12.15). The gene discussed is EIF2AK3; the disease is Thrombocytopenia.