| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Leucocyte adhesion deficiency type 1 (CD70) | Skin abscesses and recurrent infections including otitis media and sinusitis. | Autosomal Recessive | 19p13.3 | Deletion Mutation | CD70 | c.375delC | p.Thr26Profs*33 | Frame Shift leading to Premature Termination | Fayyaz et al., 2024/2024 |
