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immunodeficiency 58
Summary
- Synonym
-
- IMD58
- severe combined immunodeficiency due to CARMIL2 deficiency
- Definition
- A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1.
- Super Class
- autosomal recessive disease combined T cell and B cell immunodeficiency
External Links
- Disease Ontology
- DOID:0111984
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
