Clinical features of patients with homozygous complement C4A or C4B deficiency

Show simple item record Liesmaa, Inka Paakkanen, Riitta Järvinen, Asko Valtonen, Ville Lokki, Marja-Liisa 2018-07-27T21:23:59Z 2018-07-27T21:23:59Z 2018-06-21
dc.identifier.citation Liesmaa , I , Paakkanen , R , Järvinen , A , Valtonen , V & Lokki , M-L 2018 , ' Clinical features of patients with homozygous complement C4A or C4B deficiency ' , PLoS One , vol. 13 , no. 6 , 0199305 .
dc.identifier.other PURE: 114757772
dc.identifier.other PURE UUID: a63acb77-e56e-4cc1-ba09-24f0a0915212
dc.identifier.other WOS: 000435802500070
dc.identifier.other Scopus: 85048855884
dc.description.abstract Introduction Homozygous deficiencies of complement C4A or C4B are detected in 1-10% of populations. In genome-wide association studies C4 deficiencies are missed because the genetic variation of C4 is complex. There are no studies where the clinical presentation of these patients is analyzed. This study was aimed to characterize the clinical features of patients with homozygous C4A or C4B deficiency. Material and methods Thirty-two patients with no functional C4A, 87 patients with no C4B and 120 with normal amount of C4 genes were included. C4A and C4B numbers were assessed with genomic quantitative real-time PCR. Medical history was studied retrospectively from patients' files. Results Novel associations between homozygous C4A deficiency and lymphoma, coeliac disease and sarcoidosis were detected. These conditions were present in 12.5%, (4/32 in patients vs. 0.8%, 1/120, in controls, OR = 17.00, 95%Cl = 1.83-158.04, p = 0.007), 12.5% (4/32 in patients vs. 0%, 0/120 in controls, OR = 1.14, 95%Cl = 1.00-1.30, p = 0.002) and 12.5%, respectively (4/32 in patients vs. 2.5%, 3/120 in controls, OR = 5.571, 95%Cl = 1.79-2.32, p = 0.036). In addition, C4A and C4B deficiencies were both associated with adverse drug reactions leading to drug discontinuation (34.4%, 11/32 in C4A-deficient patients vs. 14.2%, 17/120 in controls, OR = 3.174, 95%Cl = 1.30-7.74, p = 0.009 and 28.7%, 25/87 in C4B-deficient patients, OR = 2.44, 95%Cl = 1.22-4.88, p = 0.010). Conclusion This reported cohort of homozygous deficiencies of C4A or C4B suggests that C4 deficiencies may have various unrecorded disease associations. C4 gene should be considered as a candidate gene in studying these selected disease associations. en
dc.format.extent 13
dc.language.iso eng
dc.relation.ispartof PLoS One
dc.rights cc_by
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject COMPONENT C4A
dc.subject RISK-FACTORS
dc.subject HLA SYSTEM
dc.subject 2 PARTS
dc.subject DISEASE
dc.subject GENE
dc.subject 3121 General medicine, internal medicine and other clinical medicine
dc.subject 3111 Biomedicine
dc.title Clinical features of patients with homozygous complement C4A or C4B deficiency en
dc.type Article
dc.contributor.organization Infektiosairauksien yksikkö
dc.contributor.organization HUS Inflammation Center
dc.contributor.organization University of Helsinki
dc.contributor.organization Medicum
dc.contributor.organization Transplantation Laboratory
dc.contributor.organization Clinicum
dc.contributor.organization Kardiologian yksikkö
dc.contributor.organization Department of Medicine
dc.contributor.organization HUS Heart and Lung Center
dc.contributor.organization Doctoral Programme in Food Chain and Health
dc.description.reviewstatus Peer reviewed
dc.relation.issn 1932-6203
dc.rights.accesslevel openAccess
dc.type.version publishedVersion

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