title: Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism.
abstract: 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.
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
authors.forename: Hirosuke
authors.initials: H
authors.lastname: Inoue
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Takada
authors.forename: Takeshi
authors.initials: T
authors.lastname: Kusuda
authors.forename: Takako
authors.initials: T
authors.lastname: Goto
authors.forename: Masayuki
authors.initials: M
authors.lastname: Ochiai
authors.forename: Tadamune
authors.initials: T
authors.lastname: Kinjo
authors.forename: Jun
authors.initials: J
authors.lastname: Muneuchi
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Takahata
authors.forename: Naomi
authors.initials: N
authors.lastname: Takahashi
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Morio
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
authors.forename: Toshiro
authors.initials: T
authors.lastname: Hara
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000628:therapy*; D015820:Cadherins / Q000235:genetics*; D002754:Choanal Atresia; D003103:Coloboma; D036101:Cord Blood Stem Cell Transplantation; D004062:DiGeorge Syndrome / Q000235:genetics / Q000628:therapy*; D004423:Ear / Q000002:abnormalities; D006330:Heart Defects, Congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D013577:Syndrome
chemical_list: C121291:CDH7 protein, human; D015820:Cadherins