immunodeficiency 9

Term ID

DOID:0111976

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. (2)

References

• MESH:C557826
• OMIM:612782
• ORDO:317428
• UMLS_CUI:C2748568

Ontology

Human Disease   ( DOID:0111976 )