Complement deficiencies are rare and often underdiagnosed primary immunodeficiencies that may be associated with invasive bacterial diseases. Serious infections with encapsulated organisms (mainly Streptococcus pneumoniae, but also Neisseria meningitides and Haemophilus influenzae type B) are frequent in patients with a deficiency of the second component of complement (C2), but no data are available on long-term follow-up. This study aimed to evaluate the long-term clinical outcome and the importance of an early diagnosis and subsequent infection prophylaxis in C2 deficiency. Here, we report the 21-year follow-up of a whole family which was tested for complement parameters, genetic analysis and biochemical measurements, due to recurrent pneumococcal meningitis in the elder brother. The two sons were diagnosed with homozygous type 1 C2 deficiency, while their parents were heterozygous with normal complement parameters. For the two brothers, a recommended vaccination program and antibiotic prophylaxis were prescribed. During the long-term follow-up, no severe/invasive infections were observed in either patient. At the age of 16, the younger brother developed progressive hypogammaglobulinemia of all three classes, IgA, IgM and IgG. A next generation sequencing panel excluded the presence of gene defects related to primary antibody deficiencies. Our data show that early diagnosis, use of vaccinations and antibiotic prophylaxis may allow a normal life in hereditary C2 deficiency, which can be characterized using functional and genetic methods. Moreover, a periodical check of immunoglobulin serum levels could be useful to detect a possible hypogammaglobulinemia.
Hereditary deficiency of the second component of complement: Early diagnosis and 21-year follow-up of a family / R.M. Dellepiane, L.A. Baselli, M. Cazzaniga, V. Lougaris, P. Macor, M. Giordano, R. Gualtierotti, M. Cugno. - In: MEDICINA. - ISSN 1010-660X. - 56:3(2020 Mar).
|Titolo:||Hereditary deficiency of the second component of complement: Early diagnosis and 21-year follow-up of a family|
GUALTIEROTTI, ROBERTA (Penultimo)
CUGNO, MASSIMO (Ultimo) (Corresponding)
|Parole Chiave:||C2 deficiency; Complement deficiency; Hypogammaglobulinemia; Pneumococcal meningitis; Streptococcus pneumoniae|
|Settore Scientifico Disciplinare:||Settore MED/09 - Medicina Interna|
|Data di pubblicazione:||mar-2020|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.3390/medicina56030120|
|Appare nelle tipologie:||01 - Articolo su periodico|