Term Name: immunodeficiency 9
Synonyms: CID due to ORAI1 deficiency, combined immunodeficiency due to ORAI1 deficiency, IMD9, immune dysfunction with T-cell inactivation due to calcium entry defect 1
Definition: A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31.
Ontology: Human Disease [DOID:0111976]   ( DOID:0111976 )

Relationships
is a type of: autosomal recessive disease T cell deficiency