CTLA4 and Jeune syndrome: Some of the genes that have been shown to confer susceptibility to ATD include (1) immune modulating genes: Human leukocyte antigen/HLA-DR, cytotoxic T-lymphocyte-associated protein 4/CTLA-4, cluster of differentiation 40/CD40, protein tyrosine phosphatase, non-receptor type 22 (lymphoid) PTPN22 and (2) thyroid specific genes: TG and TSHR (1, 4).