Clinical features of patients with homozygous complement C4A or C4B deficiency

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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 . https://doi.org/10.1371/journal.pone.0199305

Title: Clinical features of patients with homozygous complement C4A or C4B deficiency
Author: Liesmaa, Inka; Paakkanen, Riitta; Järvinen, Asko; Valtonen, Ville; Lokki, Marja-Liisa
Other contributor: University of Helsinki, Infektiosairauksien yksikkö
University of Helsinki, Medicum
University of Helsinki, Doctoral Programme in Food Chain and Health
University of Helsinki, Infektiosairauksien yksikkö
University of Helsinki, Medicum









Date: 2018-06-21
Language: eng
Number of pages: 13
Belongs to series: PLoS One
ISSN: 1932-6203
DOI: https://doi.org/10.1371/journal.pone.0199305
URI: http://hdl.handle.net/10138/237275
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.
Subject: SYSTEMIC-LUPUS-ERYTHEMATOSUS
RECURRENT RESPIRATORY-INFECTIONS
RP-C4-CYP21-TNX RCCX MODULES
COPY-NUMBER VARIATION
COMPONENT C4A
RISK-FACTORS
HLA SYSTEM
2 PARTS
DISEASE
GENE
3121 General medicine, internal medicine and other clinical medicine
3111 Biomedicine
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