severe combined immunodeficiency disease due to CRACM1 defect

Pathology

1)marked propensity for fungal & viral infections

• primary defect in store-operated Ca+2 entry & CRAC channel function.
• SCID T-cells show a severe impairment in NFAT-dependent gene activation

Genetics

• associated with defect in CRACM1 gene

More general terms

• combined immune deficiency

Database

• UniProt: http://www.uniprot.org/uniprot/Q96D31.html