Congenital T cell deficiency in a patient with CHARGE syndrome.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 19187738.
- Also identified by DOI 10.1016/j.jpeds.2008.07.049 and PMC identifier 4293037.
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Abstract
CHARGE syndrome is an autosomal dominant condition caused by mutations in chromodomain helicase DNA-binding 7. We report a patient with molecularly confirmed CHARGE syndrome, which included a congenital T cell deficiency, who was treated with peripheral blood mononuclear cell transplantation.
Medical subject headings
- Abnormalities, Multiple
- Choanal Atresia
- Leukocytes, Mononuclear
- T-Lymphocytes