Protein | Gene | Inheritance | Radiation sensitivity | V(D)J recombination | T cells | B cells | NK cells | Growth and central nervous system effects |
RAG1 | RAG1 | AR | No | Yes | Absent to low | Absent to low | Abnormal* | No |
RAG2 | RAG2 | AR | No | Yes | Absent to low | Absent to low | Abnormal* | No |
Artemis | DCLRE1C | AR | Yes | Yes | Absent to low | Absent to low | Normal* | No |
DNA PKcs | PRKDC | AR | Yes | Yes | Absent to low | Absent to low | Normal | Yes |
Cernunnos/XLF | NHEJ1 | AR | Yes | Yes | Absent to low | Absent to low | Normal | Yes |
DNA ligase IV | LIG4 | AR | Yes | Yes | Absent to low | Absent to low | Normal | Yes |
AR: autosomal recessive; ART-SCID: Artemis-deficient severe combined immunodeficiency; DCLRE1C: DNA cross-link repair 1C; DNA: deoxyribonucleic acid; LIG4: DNA ligase 4; NHEJ1: nonhomologous end-joining factor 1; NK: natural killer; PKcs: protein kinase catalytic subunit; PRKDC: protein kinase, DNA activated, catalytic subunit; RAG: recombination activating; SCID: severe combined immunodeficiency; V(D)J: variable, diversity, and joining; XLF: XRCC4-like factor.
* Published data suggest that NK cells are present in normal numbers but are immature and hyperactive in patients with ART-SCID, RAG-SCID, as well as other abnormal genotypes in the NHEJ pathway.[1]Adapted from: Tangye SG, Al-Herz W, Bousfiha A, et al. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 2020; 40:24.
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