Table 1.
Classification of SCID syndromes based on immunophenotype
| Inheritance | Phenotype MIM number | Gene/locus MIM number | Specific manifestations | |
|---|---|---|---|---|
| T-B-NK− | ||||
| Adenosine deaminase (ADA) deficiency | AR | 102700 | 608958 | Costochondral junction flaring, neurological features, hearing impairment, liver injury May present with Omenn syndrome |
| Reticular dysgenesis | AR | 267500 | 103020 | Profound neutropenia, deafness |
| T-B-NK+ | ||||
| RAG1/2 deficiency | AR | 601457 | 179615, 179616 | May present with Omenn syndrome. Hypomorphic mutations have been associated with a granuloma formation, and EBV-related lymphoma |
| DCLRE1C (Artemis) deficiency | AR | 602450 | 605988 | Radiation sensitivity. May present with Omenn syndrome |
| DNA-PKcs deficiency | AR | 600899 | Radiation sensitivity | |
| T-B+NK− | ||||
| Common gamma chain (γc) deficiency | XL | 300400 | 308380 | Growth failure. May present with Omenn syndrome or polymorphous lymphoproliferative disorder |
| JAK3 deficiency | AR | 600802 | 600173 | |
| T-B+NK+ | ||||
| IL7Rα deficiency | AR | 600802 | 146661 | May present with Omenn syndrome. |
| Coronin-1 A deficiency | AR | 605000 | Detectable thymus | |
| CD45 deficiency | AR | 202500 | 151460 | Normal γ/δ T cells |
| CD3δ/ CD3ɛ/CD3ζ deficiency | AR | 608971 | 186790, 186830, 186780 | No γ/δ T cells. Autoimmune manifestations are common |
Abbreviations: SCID, severe combined immune deficiencies; XL, X-linked inheritance; AR, autosomal recessive inheritance; RAG, recombination activating gene; DCLRE1C, DNA crosslink repair 1C; DNA-PKcs, DNA protein kinase catalytic subunit; JAK3, Janus activating kinase 3; IL7Rα, IL-7 receptor α-chain; EBV, Epstein–Barr virus.