CD25 (IL-2 Receptor a-chain) Deficiency
- Inheritance: Autosomal recessive
- Gene: IL2RA (CD25)
- Protein: CD25
- Tests: CD25 (IL2RA) Gene Sequencing, FOXP3/CD25 Protein Flow/TREG Flow
Key Clinical and Laboratory Features
- Common clinical features: IPEX-like symptoms including infant-onset chronic diarrhea with villus atrophy, endocrinopathies (Type 1 diabetes, thyroiditis) and dermatitis (eczema, pemphigus nodularis, psoriasiform dermatitis) are almost universal. Hepatosplenomegaly, lymphadenopathy and lymphocytic infiltrates in lung, gut and liver are also common. Chronic, severe viral infections (particularly CMV) are present in almost all patients.
- Other clinical features: Persistent thrush/candidiasis, recurrent bacterial infections, EBV infections, etc.
- Physical exam: Dermatitis, chronic cutaneous Candida infections
- Common laboratory features: Moderate T-cell lymphopenia, poor T-cell proliferative response to mitogenic stimuli, IgE normal to mildly elevated