Severe Combined Immunodeficiency among the Navajo. I. Characterization of Phenotypes, Epidemiology, and Population Genetics

Document Type

Article

Authors

James F. Jones, National Jewish Center for Immunology and Respiratory Medicine and University of Colorado School of Medicine
Cheryl K. Ritenbaugh, University of Arizona
M Anne Spence, University of California
Anthony Hayward, National Jewish Center for Immunology and Respiratory Medicine and University of Colorado School of Medicine

Abstract

Previous studies have identified a high incidence of severe combined immunodeficiency (SCID) among the Navajo Native American population. To determine the incidence and population genetics of this condition, we reviewed the death certificates of all children who died between 1969 and 1982, established the cases that met criteria identified in previously investigated cases, and interviewed the selected children’s families, SCID cases were distributed spatially and temporally. Segregation parameter estimates of 0.27-0.38 were obtained from data from 24 interviewed families, suggesting an estimated gene frequency of 2.1% (arguing against a multifactorial inheritance). SCID cases referred to specialty centers lacked T and B cells in their blood, and their serum immunoglobulins ranged from absent to near normal.

Recommended Citation

Jones, James F.; Ritenbaugh, Cheryl K.; Spence, M Anne; and Hayward, Anthony (1991) "Severe Combined Immunodeficiency among the Navajo. I. Characterization of Phenotypes, Epidemiology, and Population Genetics," Human Biology: Vol. 63: Iss. 5, Article 9.
Available at: https://digitalcommons.wayne.edu/humbiol/vol63/iss5/9