The test results suggested that the patient had potential susceptibility gene mutations for hematological tumors or immune deficiencies; her older sister carried STK11 p.F354L, CDKN2A p.L63Cfs*83, TSC1 p.Q654E, POLRMT p.Q1115Afs*45, NOTCH3 p.L1518M, FANCI p.S371G, DNAH9 p.N4073T, LRP2 p.R3305H, and C8B p.P202L heterozygous variation; her elder brother carried L1RN p.A106T, DNAH9 p.N4073T, P2RX1 p.E15K, and LRP2 p.R3305H heterozygous variation. The gene discussed is LRP2; the disease is Immunodeficiency.