IL-2 receptor deficiency
Pronunciation: eye-ell-two receptor deficiency
A primary immunodeficiency caused by mutations affecting interleukin-2 receptor components, impairing T-cell activation.
Full Definition
IL-2 receptor deficiency is a rare primary immunodeficiency disorder resulting from mutations in genes encoding components of the interleukin-2 receptor complex (IL2RA, IL2RB, or IL2RG). This deficiency impairs T-cell activation, proliferation, and function, leading to severe combined immunodeficiency or combined immunodeficiency presentations. Patients typically present with recurrent infections, autoimmunity, and lymphoproliferation. The IL2RG mutations also affect other cytokine receptors, causing X-linked SCID.
Usage
Usage note: Use hyphenated form; specify the affected subunit (alpha, beta, or gamma) when known.
In Context
- "Genetic testing confirmed IL-2 receptor deficiency as the cause of the patient's severe T-cell dysfunction." — Molecular diagnosis
- "IL-2 receptor deficiency should be considered in patients with combined immunodeficiency and autoimmune features." — Diagnostic guidelines