Athabascan severe combined immunodeficiency disease

Epidemiology

• gene frequency of 2.1% in the Navajo population

Pathology

• similar to RS-SCID

Genetics

• caused by a founder mutation in Athabascan-speaking native Americans
• autosomal recessive
• associated with mutations in Artemis gene

Clinical manifestations

• comparable to those seen in RS-SCID

More general terms

• combined immune deficiency

Database

• OMIM: https://mirror.omim.org/entry/602450