One patient diagnosed with JDH met both the ACR/EULAR-2019 and the SLICC-2012 criteria, and one patient with LPS-responsive beige-like anchor protein (LRBA) gene mutation with idiopathic thrombocytopenic purpura and hypogammaglobulinaemia met the SLICC-2012 classification criteria. The gene discussed is LRBA; the disease is autoimmune thrombocytopenic purpura.