Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism.
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.
Inoue
Hirosuke
H
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Takada
Hidetoshi
H
Kusuda
Takeshi
T
Goto
Takako
T
Ochiai
Masayuki
M
Kinjo
Tadamune
T
Muneuchi
Jun
J
Takahata
Yasushi
Y
Takahashi
Naomi
N
Morio
Tomohiro
T
Kosaki
Kenjiro
K
Hara
Toshiro
T
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
C121291:CDH7 protein, human; D015820:Cadherins