| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Leucocyte adhesion deficiency type 1 (IL7R) | Bloody diarrhea with the frequency of six to seven episodes per day, persistent fever, productive cough, skin rash, oral thrush, tonsillitis, pneumonia, and urinary tract infection. | Autosomal Recessive | 5p13.2 | Deletion Mutation | IL7R | c.412_415del | p. Val138Ilefs*10 | Frame Shift leading to Premature Termination | Fayyaz et al., 2024/2024 |
