Interleukin-2 (IL-2) receptor γ chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding

A novel splice-site mutation in the comm

A novel splice-site mutation in the common gamma chain (γc) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotype

✍ Samantha L. Ginn; Christine Smyth; Melanie Wong; Bruce Bennetts; Peter B. Rowe; 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 182 KB 👁 1 views

Mutations in the gene encoding the common gamma chain (γc) of interleukin receptors 2, 4, 7, 9, 15 and 21 result in X-linked severe combined immunodeficiency (SCID-X1). Classically, this disease is characterised by an absence of T and NK cells, and near normal numbers of functionally deficient B cel