| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| APECED Syndrome(AIRE) | chronic bronchopneumopathy,vitiligo | Autosomal Recessive disorder | 21q22.3 | NLS mutation | AIRE | 396G>C | Arg132Ser | Frame Shift Mutation | M Pellegrino et.al.,,2018/ |
