IL-2 receptor α-chain deficiency (CD25 deficiency)

It is a severe combined immunodeficiency, with absence of CD1 and of IL2RA expression on cortical thymocyte. It is characterized by decreased numbers of peripheral T cells but normal B-cell development. Extensive lymphocytic infiltration of tissues, including lung, liver, gut, and bone accompanied by tissue atrophy and inflammation. The absence of CD25 affected the differentiation of thymocytes.

Alternative names

CD25 deficiency, IL2RA deficiency, IL-2 receptor alfa chain (CD25)


  • Other Combined B and T cell immunodeficiencies
    • Other


Autosomal recessive


#606367 Interleukin 2 receptor, alpha, deficiency of

*147730 Interleukin 2 receptor, alpha; IL2RA

Cross references


Incidence is not known.