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Should MASP-2 Deficiency Be Considered a Primary Immunodeficiency? Relevance of the Lectin Pathway

Mannose-binding lectin (MBL)-associated serine protease-2 (MASP-2) is an indispensable enzyme for the activation of the lectin pathway of complement. Its deficiency is classified as a primary immunodeficiency associated to pyogenic bacterial infections, inflammatory lung disease, and autoimmunity. I...

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Autores principales: García-Laorden, M. Isabel, Hernández-Brito, Elisa, Muñoz-Almagro, Carmen, Pavlovic-Nesic, Svetlana, Rúa-Figueroa, Iñigo, Briones, M. Luisa, Rajas, Olga, Borderías, Luis, Payeras, Antoni, Lorente, Leonardo, Freixinet, Jordi, Ferreres, Jose, Obando, Ignacio, González-Quevedo, Nereida, Rodríguez de Castro, Felipe, Solé-Violán, Jordi, Rodríguez-Gallego, Carlos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7223972/
https://www.ncbi.nlm.nih.gov/pubmed/31828694
http://dx.doi.org/10.1007/s10875-019-00714-4
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author García-Laorden, M. Isabel
Hernández-Brito, Elisa
Muñoz-Almagro, Carmen
Pavlovic-Nesic, Svetlana
Rúa-Figueroa, Iñigo
Briones, M. Luisa
Rajas, Olga
Borderías, Luis
Payeras, Antoni
Lorente, Leonardo
Freixinet, Jordi
Ferreres, Jose
Obando, Ignacio
González-Quevedo, Nereida
Rodríguez de Castro, Felipe
Solé-Violán, Jordi
Rodríguez-Gallego, Carlos
author_facet García-Laorden, M. Isabel
Hernández-Brito, Elisa
Muñoz-Almagro, Carmen
Pavlovic-Nesic, Svetlana
Rúa-Figueroa, Iñigo
Briones, M. Luisa
Rajas, Olga
Borderías, Luis
Payeras, Antoni
Lorente, Leonardo
Freixinet, Jordi
Ferreres, Jose
Obando, Ignacio
González-Quevedo, Nereida
Rodríguez de Castro, Felipe
Solé-Violán, Jordi
Rodríguez-Gallego, Carlos
author_sort García-Laorden, M. Isabel
collection PubMed
description Mannose-binding lectin (MBL)-associated serine protease-2 (MASP-2) is an indispensable enzyme for the activation of the lectin pathway of complement. Its deficiency is classified as a primary immunodeficiency associated to pyogenic bacterial infections, inflammatory lung disease, and autoimmunity. In Europeans, MASP-2 deficiency, due to homozygosity for c.359A > G (p.D120G), occurs in 7 to 14/10,000 individuals. We analyzed the presence of the p.D120G mutation in adults (increasing the sample size of our previous studies) and children. Different groups of patients (1495 adults hospitalized with community-acquired pneumonia, 186 adults with systemic lupus erythematosus, 103 pediatric patients with invasive pneumococcal disease) and control individuals (1119 healthy adult volunteers, 520 adult patients without history of relevant infectious diseases, and a pediatric control group of 311 individuals) were studied. Besides our previously reported MASP-2-deficient healthy adults, we found a new p.D120G homozygous individual from the pediatric control group. We also reviewed p.D120G homozygous individuals reported so far: a total of eleven patients with a highly heterogeneous range of disorders and nine healthy controls (including our four MASP-2-deficient individuals) have been identified by chance in association studies. Individuals with complete deficiencies of several pattern recognition molecules of the lectin pathway (MBL, collectin-10 and collectin-11, and ficolin-3) as well as of MASP-1 and MASP-3 have also been reviewed. Cumulative evidence suggests that MASP-2, and even other components of the LP, are largely redundant in human defenses and that individuals with MASP-2 deficiency do not seem to be particularly prone to infectious or autoimmune diseases.
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spelling pubmed-72239722020-05-15 Should MASP-2 Deficiency Be Considered a Primary Immunodeficiency? Relevance of the Lectin Pathway García-Laorden, M. Isabel Hernández-Brito, Elisa Muñoz-Almagro, Carmen Pavlovic-Nesic, Svetlana Rúa-Figueroa, Iñigo Briones, M. Luisa Rajas, Olga Borderías, Luis Payeras, Antoni Lorente, Leonardo Freixinet, Jordi Ferreres, Jose Obando, Ignacio González-Quevedo, Nereida Rodríguez de Castro, Felipe Solé-Violán, Jordi Rodríguez-Gallego, Carlos J Clin Immunol Original Article Mannose-binding lectin (MBL)-associated serine protease-2 (MASP-2) is an indispensable enzyme for the activation of the lectin pathway of complement. Its deficiency is classified as a primary immunodeficiency associated to pyogenic bacterial infections, inflammatory lung disease, and autoimmunity. In Europeans, MASP-2 deficiency, due to homozygosity for c.359A > G (p.D120G), occurs in 7 to 14/10,000 individuals. We analyzed the presence of the p.D120G mutation in adults (increasing the sample size of our previous studies) and children. Different groups of patients (1495 adults hospitalized with community-acquired pneumonia, 186 adults with systemic lupus erythematosus, 103 pediatric patients with invasive pneumococcal disease) and control individuals (1119 healthy adult volunteers, 520 adult patients without history of relevant infectious diseases, and a pediatric control group of 311 individuals) were studied. Besides our previously reported MASP-2-deficient healthy adults, we found a new p.D120G homozygous individual from the pediatric control group. We also reviewed p.D120G homozygous individuals reported so far: a total of eleven patients with a highly heterogeneous range of disorders and nine healthy controls (including our four MASP-2-deficient individuals) have been identified by chance in association studies. Individuals with complete deficiencies of several pattern recognition molecules of the lectin pathway (MBL, collectin-10 and collectin-11, and ficolin-3) as well as of MASP-1 and MASP-3 have also been reviewed. Cumulative evidence suggests that MASP-2, and even other components of the LP, are largely redundant in human defenses and that individuals with MASP-2 deficiency do not seem to be particularly prone to infectious or autoimmune diseases. Springer US 2019-12-11 2020 /pmc/articles/PMC7223972/ /pubmed/31828694 http://dx.doi.org/10.1007/s10875-019-00714-4 Text en © Springer Science+Business Media, LLC, part of Springer Nature 2019 This article is made available via the PMC Open Access Subset for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic.
spellingShingle Original Article
García-Laorden, M. Isabel
Hernández-Brito, Elisa
Muñoz-Almagro, Carmen
Pavlovic-Nesic, Svetlana
Rúa-Figueroa, Iñigo
Briones, M. Luisa
Rajas, Olga
Borderías, Luis
Payeras, Antoni
Lorente, Leonardo
Freixinet, Jordi
Ferreres, Jose
Obando, Ignacio
González-Quevedo, Nereida
Rodríguez de Castro, Felipe
Solé-Violán, Jordi
Rodríguez-Gallego, Carlos
Should MASP-2 Deficiency Be Considered a Primary Immunodeficiency? Relevance of the Lectin Pathway
title Should MASP-2 Deficiency Be Considered a Primary Immunodeficiency? Relevance of the Lectin Pathway
title_full Should MASP-2 Deficiency Be Considered a Primary Immunodeficiency? Relevance of the Lectin Pathway
title_fullStr Should MASP-2 Deficiency Be Considered a Primary Immunodeficiency? Relevance of the Lectin Pathway
title_full_unstemmed Should MASP-2 Deficiency Be Considered a Primary Immunodeficiency? Relevance of the Lectin Pathway
title_short Should MASP-2 Deficiency Be Considered a Primary Immunodeficiency? Relevance of the Lectin Pathway
title_sort should masp-2 deficiency be considered a primary immunodeficiency? relevance of the lectin pathway
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7223972/
https://www.ncbi.nlm.nih.gov/pubmed/31828694
http://dx.doi.org/10.1007/s10875-019-00714-4
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