Table 1. . Overview of Severe combined immunodeficiency-causing genes.
| Phenotype | Affected gene |
|---|---|
| T-B- |
ADA, AK2 RAG1, RAG2, Artemis (DCLRE1C), DNA-PKcs (PRKDC), LIG4, XLF |
| T-B+ | IL2RG, JAK3 IL7RA, CD45 (PTPRC), CD3D, CD3E, CD3Z (CD247), CORO1A |
SCID is characterized by a deficiency of (functional) T cells that can be accompanied by a deficiency in B cells or NK cells or both. Indicated are the different phenotypes of SCID and the genes that, when mutated, can cause this type of deficiency. Included genes were based on criteria described by Bousfiha et al. [123].
NK: Natural killer; SCID: Severe combined immunodeficiency.