Autosomal Recessive Mutations in Cytokine Signaling Components

Some patients with a disease identical to X-linked SCID show an autosomal recessive inheritance. These patients have mutations in the IL-7 receptor a chain or the JAK3 kinase, which associates with the yc chain and is required for signaling by this receptor (see Chapter 7). Patients with mutations in the gene encoding the IL-7Ra chain have a defect in T cell development but exhibit normal NK cell development, because IL-15 signaling is unaffected, and have normal numbers of B cells.

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