Article
Should MASP-2 Deficiency Be Considered a Primary Immunodeficiency? Relevance of the Lectin Pathway.
Journal of clinical immunology - 1 Jan 2020
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
Abstract excerpt
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....
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