Vnitr Lek 2020, 66(2):e48-e52 | DOI: 10.36290/vnl.2020.041

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

Pavlína Králíčková¹, Ctirad Andrýs¹, Tomáš Freiberger^2,3, Jan Krejsek¹

¹ Ústav klinické imunologie a alergologie LF UK a FN Hradec Králové

² Centrum kardiovaskulární a transplantační chirurgie Brno

³ Ústav klinické imunologie a alergologie LF MU a FN u sv. Anny Brno

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: complement system, C2, immunodeficiency, meningitis, pneumococcal disease, vaccination.

Published: April 2, 2020  Show citation