CTLA4 and immune system disorder: There were 10 cases that showed a diagnostic result in five genes associated with ALPID (Fig. 1A; Table 3), including one homozygous variant in ADA2 that causes vasculitis, autoinflammation, immunodeficiency, and hematologic defects [18]; three heterozygous variants in CTLA4 that cause immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation [19, 20]; three likely heterozygous variants in KRAS or NRAS that cause RAS-associated autoimmune leukoproliferative disorder (RALD) [19, 21, 22]; and three hemizygous variants in MAGT1 that causes immunodeficiency [23, 24].