Defects in Cytokine Receptors and in Cytokine-Mediated Signaling Leading to SCIDa
| Lymphocytes Present | |||
|---|---|---|---|
| Disease | Genetic defect | T cells | B cells |
| a Mutations may affect cell-surface expression or ability to transduce proper receptor-driven signals to effector molecules. | |||
| γc deficiency | Mutation in γ chain of IL- 2, 4, 7, 9, 15, 21 receptors | − | + |
| Jak deficiency | Mutation in Jak3 gene | − | + |
| IL7Rα deficiency | Mutation in IL7RA gene | − | + |
| CD45 deficiency | Mutation in CD45 gene | − | + |
| CD3δ | Mutation in CD3D gene | − | + |