| AR | Autosomal Recessive |
| ACMG | American Council of Medical Genetic |
| CADD | Combined Annotation Dependent Depletion |
| CIN | Chronic Idiopathic Neutropenia |
| CVID | Common Variable ImmunoDeficiency |
| IEI | Inborn Errors of Immunity |
| LEF1 | Lymphoid Enhancer-Binding Factor 1 |
| LL | Long Lasting |
| LO | Late Onset |
| MHC | Major Histocompatibility Complex |
| NF-κB | Nuclear Factor Kappa-Light-Chain-Enhancer of Activated B-Cells |
| NGS | Next Generation Sequencing |
| P | Pathogenic |
| LP | Likely Pathogenic |
| TNF | Tumor Necrosis Factor |
| WES | Whole Exome Sequencing |
| PLCG1 | Phospholipase C (PLC) γ1 |
| GAB1 | GRB2-Associated Binder 1 |
| JNK | c-Jun N-Terminal Kinase |
| mTOR | Mammalian Target of Rapamycin |
| SCID | Severe Combined Immunodeficiency |
| VUS | Variant of Unknown Significance |