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severe combined immunodeficiency disease due to CRACM1 defect
Pathology: 1)marked propensity for fungal & viral infections
2) primary defect in store-operated Ca+2 entry & CRAC channel function.
3) SCID T-cells show a severe impairment in NFAT-dependent gene activation
Genetics:
- associated with defect in CRACM1 gene
Database Correlations
UniProt Q96D31
References
UniProt :accession Q96D31