Genetic causes of SCID
| HSC intrinsic defects . | Thymic epithelium defects . | |||
|---|---|---|---|---|
| B cells present (B+ SCID) . | B cells absent (B− SCID) . | |||
| B cells defective . | B cells functional . | Not radiosensitive . | Radiosensitive . | |
| IL2RG (X-linked) JAK3 | IL7R | RAG1 | DCLRE1C (Artemis) | DiGeorge syndrome (22q11 deletion and others) |
| CD3D | RAG2 | LIG4 | CHD7 (CHARGE syndrome) | |
| CD3E | ADA | NHEJ1 (Cernunnos) | FOXN1 | |
| PTPRC (CD45) | AK2 (reticular dysgenesis) | NBS1 (Nijmegen breakage syndrome) | ||
| HSC intrinsic defects . | Thymic epithelium defects . | |||
|---|---|---|---|---|
| B cells present (B+ SCID) . | B cells absent (B− SCID) . | |||
| B cells defective . | B cells functional . | Not radiosensitive . | Radiosensitive . | |
| IL2RG (X-linked) JAK3 | IL7R | RAG1 | DCLRE1C (Artemis) | DiGeorge syndrome (22q11 deletion and others) |
| CD3D | RAG2 | LIG4 | CHD7 (CHARGE syndrome) | |
| CD3E | ADA | NHEJ1 (Cernunnos) | FOXN1 | |
| PTPRC (CD45) | AK2 (reticular dysgenesis) | NBS1 (Nijmegen breakage syndrome) | ||
CHARGE, coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, ear abnormalities.