Missense, frameshift, or nonsense mutations in six of the 35 MAGE genes cause genetic disorders: MAGED2 is mutated in Bartter syndrome (16), NSMCE3 (MAGEG1) in lung disease, immunodeficiency, and chromosome breakage syndrome (17), MAGEA9 and MAGEB4 in cases of male infertility (18, 19, 20), while MAGEA6 mutations promote pancreatic cancer initiation and progression (21, 22). The gene discussed is NSMCE3; the disease is immunodeficiency disease.