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dc.contributor.authorGrinde, Dina
dc.contributor.authorAresvik, Dina Mikhailovna
dc.contributor.authorØverland, Torstein
dc.contributor.authorLima, Kari
dc.contributor.authorSchjalm, Camilla
dc.contributor.authorMollnes, Tom Eirik
dc.contributor.authorAbrahamsen, Tore G
dc.date.accessioned2022-01-11T13:48:07Z
dc.date.available2022-01-11T13:48:07Z
dc.date.issued2020-03-09
dc.description.abstractThe 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.en_US
dc.identifier.citationGrinde, Aresvik D, Øverland T, Lima K, Schjalm C, Mollnes TE, Abrahamsen TG. Complement Activation in 22q11.2 Deletion Syndrome. Journal of Clinical Immunology. 2020;40:515-523en_US
dc.identifier.cristinIDFRIDAID 1887176
dc.identifier.doi10.1007/s10875-020-00766-x
dc.identifier.issn0271-9142
dc.identifier.issn1573-2592
dc.identifier.urihttps://hdl.handle.net/10037/23664
dc.language.isoengen_US
dc.publisherSpringeren_US
dc.relation.journalJournal of Clinical Immunology
dc.relation.projectIDNorges forskningsråd: 223255en_US
dc.relation.projectIDinfo:eu-repo/grantAgreement/RCN/SFF/223255/Norway/Centre of Molecular Inflammation Research/CEMIR/en_US
dc.rights.accessRightsopenAccessen_US
dc.rights.holderCopyright 2020 The Author(s)en_US
dc.titleComplement Activation in 22q11.2 Deletion Syndromeen_US
dc.type.versionpublishedVersionen_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


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