Omenn Syndrome / Severe Combined Immunodeficiency, Athabaskan-Type (DCLRE1C)
Pathogenic variants in the DCLRE1C gene cause an immune disorder called Omenn syndrome, and a subtype called severe combined immunodeficiency, Athabaskan-type. Both disorders are inherited in an autosomal recessive manner. Due to a founder mutation, there is a higher prevalence of the Athabaskan-type disease among individuals of Apache and Navajo Native American descent. Patients with these diseases present in infancy with frequent infections, diarrhea, and failure to thrive. Other clinical features include impaired immunity, decreased levels of polyclonal T and B cells, and sensitivity to ionizing radiation. Without successful bone marrow transplant, affected individuals typically die within the first 6 months of age. Disease severity cannot be predicted based on the type of variants inherited.
|Disease Name||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Omenn Syndrome / Severe Combined Immunodeficiency, Athabaskan-Type||DCLRE1C||1, 3-9, 11, 13, 14  (c.362+1G>T, p.Y199*)||AR||Worldwide||< 1 in 500||10%||0.0018018018018018|
|Omenn Syndrome / Severe Combined Immunodeficiency, Athabaskan-Type||DCLRE1C||1, 3-9, 11, 13, 14  (c.362+1G>T, p.Y199*)||AR||Navajo and Apache Native Americans||1 in 48||>95%||0.00106269925611052|