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Hereditary Deficiency of the Second Component of Complement: Early Diagnosis and 21-Year Follow-Up of a Family

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 freque...

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Autores principales: Dellepiane, Rosa Maria, Baselli, Lucia Augusta, Cazzaniga, Marco, Lougaris, Vassilios, Macor, Paolo, Giordano, Mara, Gualtierotti, Roberta, Cugno, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7143546/
https://www.ncbi.nlm.nih.gov/pubmed/32164349
http://dx.doi.org/10.3390/medicina56030120
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author Dellepiane, Rosa Maria
Baselli, Lucia Augusta
Cazzaniga, Marco
Lougaris, Vassilios
Macor, Paolo
Giordano, Mara
Gualtierotti, Roberta
Cugno, Massimo
author_facet Dellepiane, Rosa Maria
Baselli, Lucia Augusta
Cazzaniga, Marco
Lougaris, Vassilios
Macor, Paolo
Giordano, Mara
Gualtierotti, Roberta
Cugno, Massimo
author_sort Dellepiane, Rosa Maria
collection PubMed
description 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.
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spelling pubmed-71435462020-04-14 Hereditary Deficiency of the Second Component of Complement: Early Diagnosis and 21-Year Follow-Up of a Family Dellepiane, Rosa Maria Baselli, Lucia Augusta Cazzaniga, Marco Lougaris, Vassilios Macor, Paolo Giordano, Mara Gualtierotti, Roberta Cugno, Massimo Medicina (Kaunas) Case Report 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. MDPI 2020-03-10 /pmc/articles/PMC7143546/ /pubmed/32164349 http://dx.doi.org/10.3390/medicina56030120 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Dellepiane, Rosa Maria
Baselli, Lucia Augusta
Cazzaniga, Marco
Lougaris, Vassilios
Macor, Paolo
Giordano, Mara
Gualtierotti, Roberta
Cugno, Massimo
Hereditary Deficiency of the Second Component of Complement: Early Diagnosis and 21-Year Follow-Up of a Family
title Hereditary Deficiency of the Second Component of Complement: Early Diagnosis and 21-Year Follow-Up of a Family
title_full Hereditary Deficiency of the Second Component of Complement: Early Diagnosis and 21-Year Follow-Up of a Family
title_fullStr Hereditary Deficiency of the Second Component of Complement: Early Diagnosis and 21-Year Follow-Up of a Family
title_full_unstemmed Hereditary Deficiency of the Second Component of Complement: Early Diagnosis and 21-Year Follow-Up of a Family
title_short Hereditary Deficiency of the Second Component of Complement: Early Diagnosis and 21-Year Follow-Up of a Family
title_sort hereditary deficiency of the second component of complement: early diagnosis and 21-year follow-up of a family
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7143546/
https://www.ncbi.nlm.nih.gov/pubmed/32164349
http://dx.doi.org/10.3390/medicina56030120
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