Please use this identifier to cite or link to this item: http://hdl.handle.net/10553/60000
DC FieldValueLanguage
dc.contributor.authorGarcía-Laorden, M. Isabelen_US
dc.contributor.authorHernandez Brito, Elisaen_US
dc.contributor.authorMuñoz-Almagro, Carmenen_US
dc.contributor.authorPavlovic-Nesic, Svetlanaen_US
dc.contributor.authorRúa-Figueroa, Iñigoen_US
dc.contributor.authorBriones, M. Luisaen_US
dc.contributor.authorRajas, Olgaen_US
dc.contributor.authorBorderías, Luisen_US
dc.contributor.authorPayeras, Antonien_US
dc.contributor.authorLorente, Leonardoen_US
dc.contributor.authorFreixinet, Jordien_US
dc.contributor.authorFerreres, Joseen_US
dc.contributor.authorObando, Ignacioen_US
dc.contributor.authorGonzález-Quevedo, Nereidaen_US
dc.contributor.authorRodríguez de Castro, Felipeen_US
dc.contributor.authorSolé-Violán, Jordien_US
dc.contributor.authorRodríguez-Gallego, Carlosen_US
dc.date.accessioned2019-12-29T18:59:10Z-
dc.date.available2019-12-29T18:59:10Z-
dc.date.issued2019en_US
dc.identifier.issn0271-9142en_US
dc.identifier.otherScopus-
dc.identifier.urihttp://hdl.handle.net/10553/60000-
dc.description.abstractMannose-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.en_US
dc.languageengen_US
dc.relation.ispartofJournal of Clinical Immunologyen_US
dc.sourceJournal of Clinical Immunology [ISSN 0271-9142]en_US
dc.subject32 Ciencias médicasen_US
dc.subject.otherMASP-2en_US
dc.subject.otherMBLen_US
dc.subject.otherPrimary immunodeficiencyen_US
dc.subject.otherComplementen_US
dc.subject.otherLectin pathwayen_US
dc.subject.otherFicolin-3en_US
dc.subject.otherCollectinen_US
dc.titleShould MASP-2 Deficiency Be Considered a Primary Immunodeficiency? Relevance of the Lectin Pathwayen_US
dc.typeinfo:eu-repo/semantics/articleen_US
dc.typeArticleen_US
dc.identifier.doi10.1007/s10875-019-00714-4
dc.identifier.scopus85076589095
dc.contributor.authorscopusid6506073949
dc.contributor.authorscopusid57212406163
dc.contributor.authorscopusid6603569864
dc.contributor.authorscopusid53164403500
dc.contributor.authorscopusid6602687781
dc.contributor.authorscopusid7006010004
dc.contributor.authorscopusid6505890335
dc.contributor.authorscopusid16168865800
dc.contributor.authorscopusid16033363200
dc.contributor.authorscopusid7006927932
dc.contributor.authorscopusid57212409370
dc.contributor.authorscopusid6603382927
dc.contributor.authorscopusid57190857512
dc.contributor.authorscopusid36952997200
dc.contributor.authorscopusid55942667000
dc.contributor.authorscopusid24391710100
dc.contributor.authorscopusid6602114379
dc.investigacionCiencias de la Saluden_US
dc.type2Artículoen_US
dc.identifier.ulpgces
dc.description.sjr1,578
dc.description.jcr6,78
dc.description.sjrqQ1
dc.description.jcrqQ1
item.grantfulltextnone-
item.fulltextSin texto completo-
crisitem.author.deptPatología médica-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptDepartamento de Ciencias Médicas y Quirúrgicas-
crisitem.author.deptPatología médica-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptDepartamento de Ciencias Médicas y Quirúrgicas-
crisitem.author.orcid0000-0002-7163-6853-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.fullNameHernández Brito, Elisa-
crisitem.author.fullNameFreixinet Gilart, Jorge Lorenzo-
crisitem.author.fullNameRodríguez De Castro, Felipe Carlos B.-
crisitem.author.fullNameRodríguez Gallego, José Carlos-
Appears in Collections:Artículos
Show simple item record

Google ScholarTM

Check

Altmetric


Share



Export metadata



Items in accedaCRIS are protected by copyright, with all rights reserved, unless otherwise indicated.