Article
X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings.
The Journal of clinical investigation - 1 May 1990
Conley M E, Buckley R H, Hong R, Guerra-Hanson C, Roifman C M, Brochstein J A, Pahwa S, Puck J M
Abstract excerpt
Over 80% of infants with severe combined immunodeficiency (SCID) of unknown genetic etiology are males, yet less than a third of these affected males have a family history of X-linked disease. To help identify new mutations of the X-linked SCID gene and to provide genetic counseling, X chromosome inactivation patterns in T cells from 16 women who had sons with sporadic SCID were examined. Between 9 and 35...
Topics
- B-Lymphocytes
- Cells, Cultured
- DNA
- DNA Probes
- Female
- Humans
- Hybrid Cells
- Immunologic Deficiency Syndromes
- Male
- Mutation
- Sex Factors