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immunodeficiency 11A
Summary
- Synonym
-
- CARD11 deficiency
- IMD11A
- SCID due to CARD11 deficiency
- severe combined immunodeficiency due to CARD11 deficiency
- Definition
- A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2.
- Super Class
- autosomal recessive disease severe combined immunodeficiency
External Links
- Disease Ontology
- DOID:0111957
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
