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 | − | + |