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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-12-11

AUTHORS

M. Isabel García-Laorden, Elisa Hernández-Brito, Carmen Muñoz-Almagro, Svetlana Pavlovic-Nesic, Iñigo Rúa-Figueroa, M. Luisa Briones, Olga Rajas, Luis Borderías, Antoni Payeras, Leonardo Lorente, Jordi Freixinet, Jose Ferreres, Ignacio Obando, Nereida González-Quevedo, Felipe Rodríguez de Castro, Jordi Solé-Violán, Carlos Rodríguez-Gallego

ABSTRACT

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. More... »

PAGES

203-210

References to SciGraph publications

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  • Journal

    TITLE

    Journal of Clinical Immunology

    ISSUE

    1

    VOLUME

    40

    Author Affiliations

  • Research Unit, Hospital Universitario de Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, Spain
  • Department of Medical and Surgical Sciences, School of Medicine, Universidad de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain
  • School of Medicine, Universitat Internacional de Catalunya, Barcelona, Spain
  • Department of Pediatrics, Complejo Hospitalario Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain
  • Rheumatology Service, Hospital Universitario de Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, Spain
  • Department of Respiratory Diseases, Hospital Clínico y Universitario de Valencia, Valencia, Spain
  • Department of Respiratory Diseases, Hospital Universitario de la Princesa, Madrid, Spain
  • Department of Respiratory Diseases, Hospital San Jorge, Huesca, Spain
  • Department of Internal Medicine, Hospital Son Llatzer, Palma de Mallorca, Spain
  • Intensive Care Unit, Hospital Universitario de Canarias, La Laguna, Spain
  • Department of Thoracic Surgery, Hospital Universitario de Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, Spain
  • Intensive Care Unit, Hospital Clínico y Universitario de Valencia, Valencia, Spain
  • Department of Pediatrics, Hospital Virgen del Rocío, Sevilla, Spain
  • Department of Immunology, Hospital Universitario de Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, Spain
  • Department of Respiratory Diseases, Hospital Universitario de Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, Spain
  • Intensive Care Unit, Hospital Universitario de Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, Spain
  • University Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s10875-019-00714-4

    DOI

    http://dx.doi.org/10.1007/s10875-019-00714-4

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1123286837

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/31828694


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