Term Name: | immunodeficiency 11A |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111957] ( DOID:0111957 ) |