FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 41 ID (Ontology) DOID:0111968 (Human Disease)
Definition 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.
Also Known As "CD25 deficiency" ; "IL2RA deficiency" ; "IMD41" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease___
primary immunodeficiency disease  |
 |__combined immunodeficiency_____|
                                  immunodeficiency 41
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Is a autosomal recessive disease
combined immunodeficiency
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Synonyms
  • "CD25 deficiency" EXACT
    "IL2RA deficiency" EXACT
    "IMD41" EXACT OMO:0003012
    "immunodeficiency 41 with lymphoproliferation and autoimmunity" EXACT
    "immunodeficiency due to CD25 deficiency" EXACT
    "interleukin-2 receptor alpha chain deficiency" EXACT
Secondary IDs
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MESH:C565232
MIM:606367
ORDO:169100