Clinical features of patients with homozygous complement C4A or C4B deficiency.

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

SUBMITTER: Liesmaa I 

PROVIDER: S-EPMC6013154 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature