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

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An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Should MASP-2 Deficiency Be Considered a Primary Immunodeficiency? Relevance of the Lectin Pathway
Creator	Muñoz-Almagro, Carmen Solé-Violán, Jordi Rajas, Olga Rodríguez De Castro, Felipe Lorente, Leonardo Borderías, Luis García-Laorden, M González-Quevedo, Nereida Rodríguez-Gallego, Carlos Ferreres, Jose Freixinet, Jordi Hernández-Brito, Elisa Obando, Ignacio Payeras, Antoni Pavlovic-Nesic, Svetlana Rúa-Figueroa, Iñigo Briones, &
Source	PMC
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.
has issue date	2019-12-11(xsd:dateTime)
bibo:doi	10.1007/s10875-019-00714-4
bibo:pmid	31828694
has license	no-cc
sha1sum (hex)	008629741abc195acab00f2f56a912bb46caa7af
schema:url	https://doi.org/10.1007/s10875-019-00714-4
resource representing a document's title	Should MASP-2 Deficiency Be Considered a Primary Immunodeficiency? Relevance of the Lectin Pathway
has PubMed Central identifier	PMC7223972
has PubMed identifier	31828694
schema:publication	J Clin Immunol
resource representing a document's body	covid:008629741abc195acab00f2f56a912bb46caa7af#body_text
is schema:about of	named entity 'serine protease' named entity 'presence' named entity 'studied' named entity 'MASP-2' named entity 'evidence' named entity 'individuals' named entity 'highly' named entity 'range' named entity 'human' named entity 'individuals' named entity 'HISTORY OF' named entity 'TOTAL' named entity 'ASSOCIATED' named entity 'DEFICIENCY' named entity 'autoimmunity' named entity 'lung disease' named entity 'collectin' named entity 'groups' named entity 'invasive pneumococcal disease' named entity 'adults' named entity 'individuals' named entity '311' named entity 'patients' named entity 'controls' named entity 'individuals' named entity 'complement' named entity 'lectin pathway' named entity 'control individuals' named entity 'pediatric' named entity 'ficolin' named entity 'MASP-2' named entity 'invasive pneumococcal disease' named entity 'collectin' named entity 'sample size' named entity 'collectin' named entity 'MASP-2' named entity 'pediatric' named entity 'Primary Immunodeficiency' named entity 'physiological' named entity 'acetyl groups' named entity 'MASP1' named entity 'primary care' named entity 'DAMPs' named entity 'asymptomatic' named entity 'MASP2' named entity 'antibiotics' named entity 'respiratory infections' named entity 'encapsulated bacteria' named entity 'MBL' named entity 'lung' named entity 'Instituto de Salud Carlos III' named entity 'community-acquired pneumonia' named entity 'causal relationship' named entity 'ficolin' named entity 'autosomal recessive' named entity 'MASPs' named entity 'ficolin' named entity 'myocardial infarction' named entity 'statistical significance' named entity 'hepatitis C virus' named entity 'severe sepsis' named entity 'MASP-2' named entity 'C1q' named entity 'PubMed' named entity 'invasive pneumococcal disease'

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