| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Leucocyte adhesion deficiency type 1 (ITGB2) | Leucocyte adhesion deficiency/Primary immunodeficiency disorders (PID) | Autosomal Recessive | 21q22.3 | Splice error | ITGB2 | c.994?1G>C | ... | Splice error | Anis et al., 2023/2023 |
| Leucocyte adhesion deficiency type 1 (ITGB2) | Leucocyte adhesion deficiency/Primary immunodeficiency disorders (PID) | Autosomal Recessive | 21q22.3 | Substitution | ITGB2 | c.817G>A | p.G273R | Missense | Anis et al., 2023/2023 |
| Leucocyte adhesion deficiency type 1 (ITGB2) | Recurrent episodes of infection, chronic diarrhea, recurrent gastrointestinal tract (GIT) infections, and delayed wound healing. | Autosomal Recessive | 21q22.3 | Deletion Mutation | ITGB2 | c.1878_1888del | p. Ser627Valfs*61 | Frame Shift leading to Premature Termination | Fayyaz et al., 2024/2024 |
| Leucocyte adhesion deficiency type 1 (ITGB2) | Severe infections, skin abscesses and recurrent high-grade fever. | Autosomal Recessive | 21q22.3 | Nonsense | ITGB2 | c.185G>T | p. Cys62* | Premature Termination | Fayyaz et al., 2024/2024 |
| Leucocyte adhesion deficiency type 1 (ITGB2) | Leukocyte adhesion deficiency | Autosomal Recessive | 21q22.3 | Substitution | ITGB2 | Cys286Phe | Misense | Tipu et al., 2020/2020 | |
| Leucocyte adhesion deficiency type 1 (ITGB2) | Leucocyte adhesion deficiency | Autosomal Recessive | 21q22.3 | Substitution | ITGB2 | Asp128Tyr | Misense | Tipuet al., 2020/2020 |
