Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism

Hirosuke Inoue, Hidetoshi Takada, Takeshi Kusuda, Takako Goto, Masayuki Ochiai, Tadamune Kinjo, Jun Muneuchi, Yasushi Takahata, Naomi Takahashi, Tomohiro Morio, Kenjiro Kosaki, Toshiro Hara

Research output: Contribution to journalArticlepeer-review

24 Citations (Scopus)


It is rare that coloboma, heart anomalies, choanal atresia, retarded growth and development, and genital and ear anomalies (CHARGE) syndrome patients have DiGeorge sequence showing severe immunodeficiency due to the defect of the thymus. Although the only treatment to achieve immunological recovery for these patients in countries where thymic transplantation is not ethically approved would be hematopoietic cell transplantation, long-term survival has not been obtained in most patients. On the other hand, it is still not clarified whether hypoparathyroidism is one of the manifestations of CHARGE syndrome. We observed a CHARGE syndrome patient with chromodomain helicase DNA-binding protein 7 mutation showing DiGeorge sequence including the defect of T cells accompanied with the aplasia of the thymus, severe hypoparathyroidism, and conotruncal cardiac anomaly. He received unrelated cord blood transplantation without conditioning at 4 months of age. Recovery of T cell number and of proliferative response against mitogens was achieved by peripheral expansion of mature T cells in cord blood without thymic output. Although he is still suffering from severe hypoparathyroidism, he is alive without serious infections for 10 months.

Original languageEnglish
Pages (from-to)839-844
Number of pages6
JournalEuropean Journal of Pediatrics
Issue number7
Publication statusPublished - 2010 Jul


  • CHARGE syndrome
  • CHD7 mutation
  • Cord blood transplantation
  • DiGeorge sequence
  • Hypoparathyroidism

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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