| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hyper IgE Syndrome (DOCK8) | eczema,skin infections,increased serum IgE levels | Autosomal Recessive | 9p24.3 | Deletion | DOCK8 | 2bp | Frame shift mutation | Dasouki et al., 2011/2011 |
