Article
Case Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome.
Frontiers in immunology - 1 Jan 2021
Belaid Brahim, Lamara Mahammed Lydia, Mohand Oussaid Aida, Migaud Melanie, Khadri Yasmine, Casanova Jean Laurent, Puel Anne, Ben Halla Nafissa, Djidjik Reda
Abstract excerpt
X-linked severe combined immunodeficiency (X-SCID) is caused by mutations of IL2RG, the gene encoding the interleukin common gamma chain (IL-2Rγ or γc) of cytokine receptors for interleukin (IL)-2, IL-4, IL-7, IL-9, IL-15, and IL-21. Hypomorphic mutations of IL2RG may cause combined immunodeficiencies with atypical clinical and immunological presentations. Here, we report a clinical, immunological, and functional...
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