RT Journal Article
T1 Should MASP-2 Deficiency Be Considered a Primary Immunodeficiency? Relevance of the Lectin Pathway.
A1 García-Laorden, M Isabel
A1 Hernández-Brito, Elisa
A1 Muñoz-Almagro, Carmen
A1 Pavlovic-Nesic, Svetlana
A1 Rúa-Figueroa, Iñigo
A1 Briones, M Luisa
A1 Rajas, Olga
A1 Borderías, Luis
A1 Payeras, Antoni
A1 Lorente, Leonardo
A1 Freixinet, Jordi
A1 Ferreres, Jose
A1 Obando, Ignacio
A1 González-Quevedo, Nereida
A1 Rodríguez de Castro, Felipe
A1 Solé-Violán, Jordi
A1 Rodríguez-Gallego, Carlos
K1 MASP-2
K1 MBL
K1 collectin
K1 complement
K1 ficolin-3
K1 lectin pathway
K1 primary immunodeficiency
AB 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.
YR 2019
FD 2019-12-11
LK http://hdl.handle.net/10668/14819
UL http://hdl.handle.net/10668/14819
LA en
DS RISalud
RD Apr 19, 2025