Mosaicism in X-linked severe combined immunodeficiency.
case_report · Level V
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- Record sourced from PubMed, PMID 9787703.
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Abstract
We performed gamma c gene analysis of a boy with severe combined immunodeficiency whose brother died of the same condition. A base pair deletion in exon 6 was found, which was absent in his mother, indicating maternal mosaicism with important implications for genetic counseling and demonstrating the importance of mutation analysis in boys with severe combined immunodeficiency.
Medical subject headings
- Mosaicism
- Severe Combined Immunodeficiency
- X Chromosome