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| Term | immunodeficiency 11A | ID (Ontology) | DOID:0111957 (Human Disease) |
| 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. | ||
| Also Known As | "CARD11 deficiency" ; "IMD11A" ; "SCID due to CARD11 deficiency" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease_______ combined immunodeficiency | |__severe combined immunodeficiency__| immunodeficiency 11A |
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| Is a |
autosomal recessive disease severe combined immunodeficiency |
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External Crossreferences & Linkouts
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MIM:615206 ORDO:357237 UMLS_CUI:C3554686 |
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