| AID | Activation-induced cytidine deaminase |
| APDS | Activated PI3 kinase delta syndrome |
| A-T | Ataxia telangiectasia |
| ATM | Ataxia telangiectasia mutated |
| CD40L | CD40 ligand |
| CMV | Cytomegalovirus |
| CSR | Class switch recombination |
| DOCK | Dedicator of cytokinesis |
| EBV | Epstein–Barr virus |
| HBV | Hepatitis B virus |
| HCV | Hepatitis C virus |
| HIGM | Hyper IgM |
| HSCT | Hematopoietic stem cell transplantation |
| IVIG | Intravenous immunoglobulin |
| LPD | Lymphoproliferative disorders |
| LRBA | Lipopolysaccharide-responsive beige-like anchor |
| MALT | Mucosa-associated lymphoid tissue |
| mAb | Monoclonal antibodies |
| NBS | Nijmegen breakage syndromes |
| NEMO | Nuclear factor κappa B essential modulator |
| NF-κB | Nuclear factor κappa B |
| NGS | Next generation sequencing |
| NHEJ | Non-homologous end joining |
| NH Lymphoma | Non-Hodgkin lymphoma |
| PBMCs | Peripheral blood mononuclear cells |
| PCR | Polymerase chain reaction |
| PIDs | Primary immunodeficiencies |
| PMS2 | Post-meiotic segregation 2 |
| RAG2 | Recombination-activating gene 2 |
| SHM | Somatic hypermutation |
| UNG | Uracil DNA glycosylase |
| VUS | Variant of unknown significance |
| WES | Whole exome sequencing |
| WHIM | Warts, hypogammaglobulinemia, infections, myelokathexis |
| XLP1 | X-linked lymphoproliferative syndrome type 1 |