| Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism. | |
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MedLine Citation:
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PMID: 20052490 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Hirosuke Inoue; Hidetoshi Takada; Takeshi Kusuda; Takako Goto; Masayuki Ochiai; Tadamune Kinjo; Jun Muneuchi; Yasushi Takahata; Naomi Takahashi; Tomohiro Morio; Kenjiro Kosaki; Toshiro Hara |
Publication Detail:
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Type: Journal Article Date: 2010-01-06 |
Journal Detail:
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Title: European journal of pediatrics Volume: 169 ISSN: 1432-1076 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 2010 Jul |
Date Detail:
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Created Date: 2010-05-26 Completed Date: 2010-09-03 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: Germany |
Other Details:
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Languages: eng Pagination: 839-44 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics,
therapy* Cadherins / genetics* Choanal Atresia Coloboma Cord Blood Stem Cell Transplantation* DiGeorge Syndrome / genetics, therapy* Ear / abnormalities Heart Defects, Congenital Humans Infant, Newborn Male Mutation* Syndrome |
| Chemical | |
Reg. No./Substance:
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0/CDH7 protein, human; 0/Cadherins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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