Term Name: immunodeficiency 11A
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 )

Relationships
is a type of: autosomal recessive disease severe combined immunodeficiency