IL2RA Gene

The IL2RA gene (IL2RA stands for "Interleukin 2 Receptor Subunit Alpha") is a protein coding gene located on chromosome 10p15.1. The interleukin 2 receptor is involved in the regulation of immune tolerance by controlling the activity of regulatory T cells (TREGs). TREGs suppress the activation and expansion of autoreactive T cells.

Diseases associated with IL2RA include:

• Immunodeficiency 41 with lymphoproliferation and autoimmunity.
• Furthermore, the IL2RA gene represents a susceptibility gene for juvenile idiopathic arthritis.

Immunodeficiency-41 with lymphoproliferation and autoimmunity is a rare, autosomal recessive, complex immunodeficiency syndrome localized by mutations in the IL2RA gene (10p15.1). Affected individuals show recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features such as autoimmune enteropathy and features of atopic dermatitis as early as infancy. Immunological studies show that the receptor defect causes interleukin-10 not to be expressed, so that the clinical symptoms correspond to interleukin-10 deficiency.

1. Bezrodnik L et al (2014) Follicular bronchiolitis as phenotype associated with CD25 deficiency. Clin. Exp. Immun. 175: 227-234.
2. Caudy AA et al. (2007) CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes. J Allergy Clin Immun 119: 482-487.
3. Flynn FM et al. (2017) The emerging role of anti-CD25 directed therapies as both immune modulators and targeted agents in cancer. British Journal of Haematology 179: 20-35.
4. Goudy K et al (2013) IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity. Clin Immun 146: 248-261.
5. Hinks A et al (2009) Rheumatoid Arthritis Genetics Consortium; British Society of Paediatric and Adolescent Rheumatology Study Group. Association of the IL2RA/CD25 gene with juvenile idiopathic arthritis. Arthritis Rheum 60:251-257.
6. Roifman CM (2000) Human IL-2 receptor alpha chain deficiency. Pediat Res 48: 6-11.
7. Sharfe N et al (1997) Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor. Proc Nat Acad Sci 94: 3168-3171.