AR, autosomal recessive; AD, autosomal dominant; CID, combined immunodeficiency; Igs, immunoglobulins; LRI, lower respiratory tract infections; N/A, not available; PHA, phytohemagglutinin; PMA + iono, phorbol myristate acetate + ionomycin; RTE, recent thymic emigrants; SCID, severe combined immunodeficiency. The gene discussed is CUBN; the disease is severe combined immunodeficiency.