Conditions / Immune
immunodeficiency 41
info · Immune
A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and var
A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1.
Signs and symptoms
- Alopecia universalis
- Failure to thrive in infancy
- Increased circulating IgE concentration
- Type I diabetes mellitus
- Enlarged tonsils
- Prominent forehead
- Thyroiditis
- Concave nasal ridge
- Recurrent bacterial infections
- Lymphadenopathy
Also known as: CD25 deficiency; IL2RA deficiency; IMD41; immunodeficiency 41 with lymphoproliferation and autoimmunity; immunodeficiency due to CD25 deficiency