Article
Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.
European journal of immunology - 1 Oct 2014
Fuchs Sebastian, Rensing-Ehl Anne, Erlacher Miriam, Vraetz Thomas, Hartjes Lara, Janda Ales, Rizzi Marta, Lorenz Myriam R, Gilmour Kimberly, de Saint-Basile Geneviève, Roifman Chaim M, Cheuk Steven, Gennery Andrew, Thrasher Adrian J, Fuchs Ilka, Schwarz Klaus, Speckmann Carsten, Ehl Stephan
Abstract excerpt
X-linked severe combined immunodeficiency (X-SCID) leads to a T(-) NK(-) B(+) immunophenotype and is caused by mutations in the gene encoding the IL-2 receptor γ-chain (IL2RG). IL2RG(R222C) leads to atypical SCID with a severe early onset phenotype despite largely normal NK- and T-cell numbers. To address this discrepancy, we performed a detailed analysis of T, B, and NK cells, including quantitative STAT...
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