Article ; Online: Complement Activation in 22q11.2 Deletion Syndrome.
Journal of clinical immunology
2020 Volume 40, Issue 3, Page(s) 515–523
Abstract: The 22q11.2 deletion syndrome (22q11.2 del), also known as DiGeorge syndrome, is a genetic disorder with an estimated incidence of 1:3000 to 1:6000 births. These patients may suffer from affection of many organ systems with cardiac malformations, ... ...
| Abstract | The 22q11.2 deletion syndrome (22q11.2 del), also known as DiGeorge syndrome, is a genetic disorder with an estimated incidence of 1:3000 to 1:6000 births. These patients may suffer from affection of many organ systems with cardiac malformations, immunodeficiency, hypoparathyroidism, autoimmunity, palate anomalies, and psychiatric disorders being the most frequent. The importance of the complement system in 22q11.2 del has not been investigated. The objective of this study was to evaluate the complement system in relation to clinical and immunological parameters in patients. A national cohort of patients (n = 69) with a proven heterozygous deletion of chromosome 22q11.2 and a group of age and sex matched controls (n = 56) were studied. Functional capacity of the classical, lectin, and alternative pathways of the complement system as well as complement activation products C3bc and terminal complement complex (TCC) were accessed and correlated to clinical features. All patients in our study had normal complement activation in both classical and alternative pathways. The frequency of mannose-binding lectin deficiency was comparable to the normal population. The patients had significantly raised plasma levels of C3bc and a slight, but not significant, increase in TCC compared with controls. This increase was associated with the presence of psychiatric disorders in patients. The present study shows no complement deficiencies in 22q11.2 deletion syndrome. On the contrary, there are signs of increased complement activation in these patients. Complement activation is particularly associated with the presence of psychiatric disorders. |
|---|---|
| MeSH term(s) | Adolescent ; Child ; Child, Preschool ; Cohort Studies ; Complement Activation/physiology ; Complement C3b ; Complement Membrane Attack Complex/metabolism ; Complement Pathway, Alternative ; DiGeorge Syndrome/epidemiology ; DiGeorge Syndrome/immunology ; Female ; Humans ; Male ; Mental Disorders/epidemiology ; Norway/epidemiology ; Peptide Fragments/blood ; Up-Regulation |
| Chemical Substances | C3 beta c ; Complement Membrane Attack Complex ; Peptide Fragments ; Complement C3b (80295-43-8) |
| Language | English |
| Publishing date | 2020-03-09 |
| Publishing country | Netherlands |
| Document type | Journal Article ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 779361-3 |
| ISSN | 1573-2592 ; 0271-9142 |
| ISSN (online) | 1573-2592 |
| ISSN | 0271-9142 |
| DOI | 10.1007/s10875-020-00766-x |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
Full text online
More links
Kategorien
In stock of ZB MED Cologne/Königswinter
| Zs.A 1640: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG) |
Order via subito
This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.