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Congenital T cell deficiency in a patient with CHARGE syndrome.
| Title | Congenital T cell deficiency in a patient with CHARGE syndrome. |
| Publication Type | Journal Article |
| Year of Publication | 2009 |
| Authors | Hoover-Fong J, Savage WJ, Lisi E, Winkelstein J, Thomas GH, Hoefsloot LH, Loeb DM |
| Journal | The Journal of pediatrics |
| Volume | 154 |
| Issue | 1 |
| Pagination | 140-2 |
| Date Published | 2009 Jan |
| 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. |
| DOI | 10.1242/jcs.031427 |
| Alternate Journal | J. Pediatr. |
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