| Abbreviation | Explanation | Link |
| AAAAI | American Academy of Allergy, Asthma & Immunology | AAAAI |
| AARDA | The American Autoimmune Related Diseases Association | AARDA |
| ABCB3 | ATP-Binding Cassette, Subfamily B, Member 3 | ABCB3 |
| ACAAI | American College of Allergy, Asthma, and Immunology | ACAAI |
| ADA | Adenosine deaminase | ADA |
| AR | Autosomal recessive | AR |
| ARTEMIS | Artemis protein | ARTEMIS |
| ASCIA | Australasian Socienty of Clinical Immunology and Allergy | ASCIA |
| ASHI | American Society for Histocompatibility and Immunogenetics | ASHI |
| AT | Ataxia Telengiectasia | AT |
| ATM | Ataxia telangiectasia mutated | ATM |
| BLM | Bloom syndrome | BLM |
| BTK | Bruton agammaglobulinemia tyrosine kinase | BTK |
| C1NH | complement component 1 inhibitor (angioedema, hereditary) | C1NH |
| C1QA | Complement component 1, q subcomponent, alpha polypeptide | C1QA |
| C1QB | Complement component 1, q subcomponent, beta polypeptide | C1QB |
| C1QG | Complement component 1, q subcomponent, gamma polypeptide | C1QG |
| C1R | Complement component 1, r subcomponent | C1R |
| C1S | Complement component 1, s subcomponent | C1S |
| C2 | Complement component 2 | C2 |
| C3 | Complement component 3 | C3 |
| C4A | Complement component 4A | C4A |
| C4B | Complement component 4B | C4B |
| C5 | Complement component 5 | C5 |
| C6 | Complement component 6 | C6 |
| C7 | Complement component 7 | C7 |
| C8A | Complement component 8, alpha polypeptide | C8A |
| C8B | Complement component 8, beta polypeptide | C8B |
| C9 | Complement component 9 | C9 |
| CD3E | CD3E antigen, epsilon polypeptide (TiT3 complex) | CD3E |
| CD3G | CD3G antigen, gamma polypeptide (TiT3 complex) | CD3G |
| CD40L | Tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome) | CD40L |
| CD40LG | Tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome) | CD40LG |
| CD8A | CD8 antigen, alpha polypeptide (p32) | CD8A |
| CHS1 | Chediak-Higashi syndrome 1 | CHS1 |
| CID | Combined immunodeficiencies | CID |
| CIITA | MHC2TA (MHC class II transactivator) | CIITA |
| CSACI | Canadian Society of Allergy and Clinical Immunology | CSACI |
| CVI | Common variable immunodeficiency | CVI |
| CVID | Common variable immunodeficiency | CVID |
| CYBA | Cytochrome b-245, alpha polypeptide | CYBA |
| CYBB | Cytochrome b-245, beta polypeptide (chronic granulomatous disease) | CYBB |
| DF | D component of complement (adipsin) | DF |
| DGCR | DiGeorge syndrome chromosome region | DGCR |
| DNMT3B | DNA (cytosine-5-)-methyltransferase 3 beta | DNMT3B |
| DSHP | SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome) | DSHP |
| EBV | Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor) | EBV |
| EFIS | European Federation of Immunological Societies | EFIS |
| ESID | European Society for Immunodeficiencies | ESID |
| FAA | Fanconi anemia, complementation group H | FAA |
| FAC | Fanconi anemia, complementation group C | FAC |
| FAIS | The Federation of African Immunological Societies | FAIS |
| FIMSA | Federation of Immunological Societies of Asia-Oceania | FIMSA |
| HF1 | H factor 1 (complement) | HF1 |
| HIM | Hyper-IgM Syndrome | HIM |
| ICF | Immunodeficiency-centromeric instability-facial anomalies syndrome | ICF |
| IDR | The Immunodeficiency Resource | IDR |
| IF | I factor (complement) | IF |
| IFNGR1 | Interferon gamma receptor 1 | IFNGR1 |
| IFNGR2 | Interferon gamma receptor 2 (interferon gamma transducer 1) | IFNGR2 |
| IGAD1 | Immunoglobulin A (IgA) deficiency susceptibility 1 | IGAD1 |
| IGHG1 | Immunoglobin heavy constant gamma 1 (G1m marker) | IGHG1 |
| IGHG2 | Immunoglobin heavy constant gamma 2 (G2m marker) | IGHG2 |
| IGHG3 | Immunoglobin heavy constant gamma 3 (G3m marker) | IGHG3 |
| IGHG4 | Immunoglobin heavy constant gamma 4 (G4m marker) | IGHG4 |
| IGKC | Immunoglobulin kappa constant | IGKC |
| IL12B | Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) | IL12B |
| IL12RB | Interleukin 12 receptor, beta 1 | IL12RB |
| IL2RG | Interleukin 2 receptor, gamma (severe combined immunodeficiency | IL2RG |
| IL7R | Interleukin 7 receptor | IL7R |
| IPOPI | International Patient Organisations for Patients with Primary Immunodeficiencies | IPOPI |
| IRIS | Immuno-déficience héréditaire : Recherche, Information,Soutien | IRIS |
| ITAM | Immunoreceptor tyrosine-based activation motif | ITAM |
| ITGB2 | Integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit) | ITGB2 |
| IUIS | International Union of Immunological Societies | IUIS |
| IgA | Immunoglobulin A | IgA |
| IgE | Immunoglobulin E | IgE |
| IgG | Immunoglobin gamma | IgG |
| IgM | Immunoglobulin M | IgM |
| JAK3 | Janus kinase 3 (a protein tyrosine kinase, leukocyte) | JAK3 |
| LAD | Leukocyte Adhesion Deficiency, Type I | LAD |
| LAGID | Latin American group for primary immunodeficiencies | LAGID |
| MHC | Major histocompatibility complex | MHC |
| MHC2TA | MHC class II transactivator | MHC2TA |
| NCF1 | Neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1) | NCF1 |
| NCF2 | Neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2) | NCF2 |
| NP | Nucleoside phosphorylase | NP |
| OMIM | Immunodeficiencies by Online Mendelian Inheritance in Man | OMIM |
| PAGID | Pan American Group for Immunodeficiency | PAGID |
| PFC | Properdin P factor, complement | PFC |
| PH | Synonym for ADAM1,SPAM1 | PH |
| PIA | Primary Immunodeficiency Association | PIA |
| PID | Primary immune deficiencies | PID |
| PIO | Primary Immunodeficiency Organisation | PIO |
| PNP | Purine nucleoside phosphorylase | PNP |
| PRF1 | Perforin 1 (preforming protein) | PRF1 |
| PTPRC | Protein tyrosine phosphatase, receptor type, C | PTPRC |
| RAC2 | Ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) | RAC2 |
| RAG1 | Recombination activating gene 1 | RAG1 |
| RAG2 | Recombination activating gene 2 | RAG2 |
| RF | Replication protein A1 (70kD) | RF |
| RFX | Regulatory factor X | RFX |
| RFX5 | Regulatory factor X, 5 (influences HLA class II expression) | RFX5 |
| RFXANK | Regulatory factor X-associated ankyrin-containing protein | RFXANK |
| RFXAP | Regulatory factor X-associated protein | RFXAP |
| SAP | Serum Amyloid P | SAP |
| SCID | Severe combined immunodeficiencies | SCID |
| SH2 | Src homology (SH) 2 domain | SH2 |
| SH2D1A | SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome) | SH2D1A |
| SH3 | Src homology (SH) 3 domain | SH3 |
| SLAM | Signaling lymphocytic activation molecule | SLAM |
| STAT | Signal transducers and activators of a transcription | STAT |
| TAP2 | Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) | TAP2 |
| TCR | T cell receptor | TCR |
| TH | Tyrosine hydroxylase | TH |
| TNF | Tumor necrosis factor | TNF |
| WAS | Wiskott-Aldrich syndrome | WAS |
| WASP | Wiskott-Aldrich syndrome protein | WASP |
| X-CGD | X-linked chronic granulomatous disease | X-CGD |
| XHIM | X-linked hyper IgM Syndrome | XHIM |
| XLA | Agammaglobulinemia, X-Linked | XLA |
| XLP | Lymphoproliferative syndrome, x-linked | XLP |
| XSCID | Severe combined immunodeficiency, x-linked | XSCID |
| ZAP70 | Zeta-chain (TCR) associated protein kinase (70 kD) | ZAP70 |