| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Leucocyte adhesion deficiency type 1 (CD3E) | Recurrent upper respiratory tract infections accompanied by fever and failure to thrive, severe pneumonia and oxygen dependency, lymphopenia. | Autosomal Recessive | 11q23.3 | Nonsense | CD3E | c.452G>A | p. Trp151* | Premature Termination | Fayyaz et al., 2024/2024 |
