Inherited C2-complement deficiency: variable clinical manifestation (case reports and review)

Czech version

Authors: Pavlína Králíčková ¹; Ctirad Andrýs ¹; Tomáš Freiberger ^2,3; Jan Krejsek ¹
Authors‘ workplace: Ústav klinické imunologie a alergologie LF UK a FN Hradec Králové ¹; Centrum kardiovaskulární a transplantační chirurgie Brno ²; Ústav klinické imunologie a alergologie LF MU a FN u sv. Anny Brno ³
Published in: Vnitř Lék 2020; 66(2): 87-91
Category: Case Report

Overview

C2 deficiency represents the most frequent type of a complement deficiency. Clinical manifestation includes infections caused by encapsulated bacteria (Steptococcus pneumoniae, Neisseria meningitidis) such as meningitis, gonitis, pneumonia or septicaemia. A causative treatment has not been available yet. A prophylactic vaccination and/or a long-term antibiotics prophylaxis are recommended. Here we report 2 patients from 2 unrelated families. The first patient suffered from recurrent otitis in his childhood. He underwent osteomyelitis, meningitis complicates with hear-loss, and one episode of pneumonia during adulthood. The second index patient underwent uncomplicated meningitis in his preschool age. He has been treated for recurrent upper-airways infections later. His sister has been completely asymptomatic. The deletion 28 bp (c.841-849+19del28) in C2-gene was detected in all of them in homozygous form. Our paper highlights the variability of a clinical manifestation in homozygous carriers, ranged from asymptomatic cases to patients with history of severe complications. The diagnosis is frequently made even in adulthood.

Keywords:

vaccination – Meningitis – complement system – C2 – immunodeficiency – pneumococcal disease

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