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Athabascan severe combined immunodeficiency disease
Epidemiology:
- gene frequency of 2.1% in the Navajo population
Pathology:
- similar to RS-SCID
Genetics:
1) caused by a founder mutation in Athabascan-speaking native Americans
2) autosomal recessive
3) associated with mutations in Artemis gene
Clinical manifestations:
- comparable to those seen in RS-SCID
Database Correlations
OMIM 602450
References
OMIM :accession 602450