In his study, we present the characteristics of an Iranian boy with SCBMS and CD4 deficiency, reporting the first case of aspergillosis associated with the NM_005219.5 c.3145C > T; p.R1049X variant of homozygous DIAPH1 loss. This evidence concerns the gene DIAPH1 and hyperinsulinemic hypoglycemia, familial, 4.