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11.12.2019 | Original Article

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

verfasst von: 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

Erschienen in: Journal of Clinical Immunology | Ausgabe 1/2020

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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.

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Titel: Should MASP-2 Deficiency Be Considered a Primary Immunodeficiency? Relevance of the Lectin Pathway
verfasst von: 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
Publikationsdatum: 11.12.2019
Verlag: Springer US
Erschienen in: Journal of Clinical Immunology / Ausgabe 1/2020
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-019-00714-4

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