Table 1
Classification of severe combined immunodeficiency
| Syndrome | T cells | B cells | NK cells | Inheritance |
|---|---|---|---|---|
| The hallmark of severe combined immunodeficiency is an absence of mature T cells. Further delineation is marked by the presence or absence of B and natural killer cells, inheritance pattern, and the genetic molecular defect, where known. | ||||
| ADA, adenosine deaminase; BCR, B cell receptor; CγC, interleukin 2 receptor common γ chain; GvDH, graft versus host disease; IL7Rα, the α chain of the interleukin 7 receptor; JAK3, Janus associated kinase 3; MFE, maternofetal lymphoid engraftment; MHC, major histocompatibility complex; NK, natural killer; RAG, recombination activating genes; TCR, T cell receptor. | ||||
| Reticular dysgenesis | − | − | − | AR |
| ADA deficiency | − | − | − | AR |
| RAG 1, 2 deficiency | − | − | + | AR |
| TCR + BCR recombination gene deficiency | − | − | + | AR |
| CγC deficiency | − | + | − | XL |
| JAK3 deficiency | − | + | − | AR |
| IL7Rα deficiency | − | + | + | AR |
| Omenn's syndrome | + | − | + | AR |
| ZAP-70 kinase deficiency | CD4+ | + | + | AR |
| CD4+ lymphopenia | CD8+ | + | + | AR |
| MHC II deficiency | CD8+ | + | + | AR |
| p56lck deficiency | CD8+ | + | + | AR |
| Non-host T cells (MFE or transfusion GvHD) | + | +/− | +/− | |
