title: [DiGeorge syndrome--significance of early diagnosis in cellular immunodeficiency].
abstract: Di George syndrome is caused by anomalous development of the organs arising from the third and fourth pharyngeal pouches and results in congenital aplasia of the thymus, aplasia or hypoplasia of the parathyroid glands and cardiovascular malformations. Clinically, affected children show hypoparathyroidism and, because of depressed cell-mediated immunity, serious bacterial, viral and fungal infections. We present an infant, aged 6 weeks, with convulsions due to hypocalcemia, in which cell-mediated immunodeficiency was detected. Additionally diagnostic and therapeutic possibilities in DiGeorge syndrome are shown.
mesh_terms: D002118:Calcium / Q000097:blood; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000276:immunology / Q000473:pathology; D006801:Humans; D007111:Immunity, Cellular; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis*; D007223:Infant; D007958:Leukocyte Count; D008198:Lymph Nodes / Q000473:pathology; D008213:Lymphocyte Activation; D008297:Male; D010710:Phosphates / Q000097:blood; D013601:T-Lymphocytes / Q000276:immunology
chemical_list: D010710:Phosphates; D002118:Calcium
vernacular_title: DiGeorge-Syndrom--Die Bedeutung der Frühdiagnose be zellulären Immundefizienzen.