Table 1. Genetic background of severe combined immunodeficiency (SCID) listed by immunological phenotype.
| Immunological Phenotype | Gene Product | |
|---|---|---|
| T-B-NK+ | DCLRE1C (ARTEMIS) | }V(D)J recombination |
| DNA-PKcs | ||
| LIG4 | ||
| PGM3 | ||
| RAG1, RAG2 | ||
| XLF (NHEJ1, Cernunnos) | ||
| T-B+NK+ | CD3δ | |
| CORO1A | ||
| IL-7R | ||
| FOXN1 | ||
| 22q11.2 deletion (full DiGeorge syndrome) | ||
| TBX1 | ||
| LAT | ||
| T-B-NK+ | IL2RG | |
| JAK3 | ||
| T-B-NK- | PNP | |
| ADA | ||
| AK2 | ||
| T-B-/+NK+/low | CD45 | |
| T-B+NK+/low | RPP25 (RMRP) | |
| T+B-NK- | Hoyeraal-Hreidarsson Syndrome DKC1 (dyskerin), TERT, TINF2, DCLRE1B (Apollo) | |
T-B-NK+: T and B cell negative, natural killer cell positive; DCLRE1: DNA cross-link repair 1C (artemis); DNA-PKcs: DNA-dependent protein kinase, catalytic subunit; LIG4: DNA ligase IV; XLF: XRCC4-like factor (Cernunnos) or NHEJ1: non-homologous end-joining factor; RAG1: recombination activating gene 1; RAG2: recombination activating gene 2; PMG3: phosphoglucomutase 3.
CD3δ: cluster of differentiation 3 delta chain; CORO1A: coronin-1A; IL-7R: interleukin-7 receptor; FOXN1: forkhead box N1; 22q11.2 deletion (Full DiGeorge Syndrome); TBX1: T-box 1; LAT: linker for activation of T cells; IL2RG: interleukin 2 receptor subunit gamma (“common γ chain”); JAK3: Janus kinase 3; PNP: purine nucleoside phosphorylase;
ADA: adenosine deaminase deficiency; AK2: adenylate kinase 2; CD45: cluster of differentiation (leukocyte common antigen 45); RMRP: RNA component of mitochondrial RNA processing endoribonuclease; DKC1: dyskerin pseudouridine synthase 1; TERT: Telomerase reverse transcriptase; TINF2: TERF1-interacting nuclear factor 2; DCLRE1B: DNA cross-link repair 1B protein (Apollo).