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Metadata
ID DOID:0111957
Name immunodeficiency 11A
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 CARD11 on chromosome 7p22.2.
https://pubmed.ncbi.nlm.nih.gov/23374270/, https://pubmed.ncbi.nlm.nih.gov/23561803/
Xrefs

OMIM:615206

ORDO:357237

UMLS_CUI:C3554686

Synonyms

CARD11 deficiency [EXACT]

IMD11A [EXACT]

SCID due to CARD11 deficiency [EXACT]

severe combined immunodeficiency due to CARD11 deficiency [EXACT]

Parent Relationships

is_a severe combined immunodeficiency

is_a autosomal recessive disease

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