Cases in which no mutations were initially identified underwent reanalysis in an expanded panel of genes related to inborn errors of immunity and hematological disorders, leading to the identification of a further 42 significant variants, associated with common variable immune deficiency (CVID), immune dysregulation, or bone marrow failures, most frequently involving the SOS1, TNFRSF13B, STAT5B, FAS, and CTLA4 genes (Supplementary Figure S1). The gene discussed is STAT5B; the disease is common variable immunodeficiency.