Different SCID forms categorized on the type of the molecular defect
| Type of defect . | Specific molecular abnormality . |
|---|---|
| Cytokine signaling defects | γc, JAK3, IL-7Rα |
| TCR defects | CD3δ/ε/ζ, ZAP-70, lck, Orai1 |
| VDJ recombination defects | RAG1/2, Artemis, DNA ligase IV, Cernunnos-XLF, DNA PKcs |
| Defects of metabolism | ADA, AK2 (reticular dysgenesis) |
| Other | CD45, Coronin 1A, RMRP |
| Type of defect . | Specific molecular abnormality . |
|---|---|
| Cytokine signaling defects | γc, JAK3, IL-7Rα |
| TCR defects | CD3δ/ε/ζ, ZAP-70, lck, Orai1 |
| VDJ recombination defects | RAG1/2, Artemis, DNA ligase IV, Cernunnos-XLF, DNA PKcs |
| Defects of metabolism | ADA, AK2 (reticular dysgenesis) |
| Other | CD45, Coronin 1A, RMRP |
ADA, adenosine deaminase; AK2, adenylate kinase 2; DNA PKcs, DNA protein kinase catalytic subunit; IL-7Rα, interleukin 7 receptor α; JAK3, janus kinase 3; lck, lymphocyte-specific protein tyrosine kinase; Orai1, ORAI calcium release-activated calcium modulator 1; RAG1/2, recombinase activating gene 1 and 2; RMRP, RNA component of mitochondrial RNA processing endoribonuclease; XLF, X-ray cross-complementing gene 4-like factor; ZAP-70, ζ associated protein-70.