Thymusaplasie und -hypoplasie mit Hypoparathyreoidismus, Herz- und Gefäßmißbildungen (Di-George-Syndrom)

The DiGeorge syndrome

“…There are early case reports on concomitant occurrence of idiopathic hypoparathyroidism and chronic Candida infections, suggesting that cellular immunity may be compromised, at least in some cases of this rare condition [37]. As CHD and typical facial stigmata were found to contribute to the syndrome in most cases reported later, the two patients included in this report with hypoparathyroidism, typical facies and immunologic disturbances but without CHD fit well into the broad spectrum of DGS [5,6,9,10,14,29]. Congenital absence of the thymus and parathyroid glands were the only features of DiGeorge's original description [15].…”

“…DGS is a rare congenital malformation arising early in embryonic life [6,9,16 Assuming an incidence rate of 0.8% for CHD in the general population, the minimal incidence rate for DGS would be near 5.t2 in 100000 children. Several syndromes with facial dysplasia must be distinguished from that of DGS [25].…”

“…Depending on the cause, severity and the time of the embryonic insult during the 4th-7th week of gestation, a varying picture of clinical defects may arise [5-7, 9, 10, 14, 25, 34]. In a thorough analysis of 231 Offprint requests to: W. Mtiller Abbreviations: ABC-33 = antigen-binding-capacity-33; BSA = bovine serum albumin; cDGS = complete DiGeorge syndrome; CHD = congenital heart disease; DGS = DiGeorge syndrome; hPTH = human parathyroid hormone; PBMC = peripheral blood mononuclear cells; pDGS = partial DiGeorge syndrome cases reported in the literature, Belohradsky recently reevaluated clinical, cardiologic, immunologic, endocrine and genetic aspects of the DiGeorge syndrome (DGS) and, for the first time, added a quantitative notion to the various signs and symptoms of this anomaly [6]. The clinical activity and prognosis are clearly dominated by hypocalcaemic convulsions and aorto-cardiac malformation.…”

Immunoglobulin E in primary immunodeficiency diseases

“…In DiGeorge syndrome (chromosome 22q11.2 deletion syndrome) (25), which is characterized by thymic hypoplasia, meta-analyses of small cohorts revealed elevated serum IgE in 11 out of 35 patients (26)(27)(28)(29)(30). Allergic signs or symptoms, however, were not common in these infants.…”

Neue Aspekte zum Hypoparathyreoidismus und Pseudohypoparathyreoidismus im Kindes- und Jugendalter

“…durch assoziierte Erkrankungen geprägt. Embryonalwoche in enger topographischer Nachbarschaft stattfindet[11]. -wirkung variieren (Abb.…”