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...

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Veröffentlicht in:	European journal of pediatrics 2010-07, Vol.169 (7), p.839-844
Hauptverfasser:	Inoue, Hirosuke, Takada, Hidetoshi, Kusuda, Takeshi, Goto, Takako, Ochiai, Masayuki, Kinjo, Tadamune, Muneuchi, Jun, Takahata, Yasushi, Takahashi, Naomi, Morio, Tomohiro, Kosaki, Kenjiro, Hara, Toshiro
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Abnormalities, Multiple - therapy Biological and medical sciences Blood Cadherins - genetics Cell cycle Choanal Atresia Chromosomes Coloboma Cord Blood Stem Cell Transplantation DiGeorge Syndrome - genetics DiGeorge Syndrome - therapy Ear - abnormalities Ears & hearing Endocrinopathies General aspects Heart Defects, Congenital Humans Immune system Infant, Newborn Lymphocytes Male Medical sciences Medicine Medicine & Public Health Mutation Non tumoral diseases. Target tissue resistance. Benign neoplasms Original Paper Parathyroids. Parafollicular cells. Cholecalciferol. Phosphocalcic homeostasis (diseases) Patients Pediatrics Proteins Pulmonary arteries Syndrome T cell receptors Thymus gland Tomography
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