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scopus(10)
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
ArticleAbstract: Background: An increasing number of NFKB1 variants are being identified in patients with heterogeneoPalabras claves:Autosomal dominant, common variable immunodeficiency, NF-κB1-related phenotype, NFKB1 mutation, NFKB1 variant, reduced penetranceAutores:Abolhassani H., Adhya Z., Aghamohammadi A., Alachkar H., Allen H.L., Allende L.M., Alosaimi M., Alsina L., Ameratunga R., Anantharachagan A., Antrobus R., Arumugakani G., Ashford S., Astle W.J., Atschekzei F., Attwood A., Bacchelli C., Bakhtiar S., Barış S., Bartsch O., Batista J., Baxendale H.E., Bethune C., Bibi S., Bleda M., Boardman B., Booth C., Boztug K., Bradley J.R., Brauer N., Breen G., Brown M., Browning M.J., Brownlie M., Buckland M.S., Bulashevska A., Burns S.O., Burren O.S., Camacho-Ordonez N., Carss K., Chambers J., Chandra A., Chou J., Christiansen M., Cook M., Cunningham-Rundles C., de Vries E., Deyà-Martínez A., Dos Santos Vilela M.M., Fischer U., Fliegauf M., Frede N., Freeman A.F., Geha R., Gonzalez-Granado L.I., Grimbacher B., Hammarström L., Hautala T., Helminen M., Hirschmugl T., Holzinger D., Ip W., Kinnunen M., Klammer N., Klein C., Kobbe R., Kuijpers T.W., Kuismin O., Kuzmenko N., Lorenzini T., Lougaris V., Luis Alberto Pedroza, Martínez-Gallo M., Neves J.F., Niehues T., Patel N.C., Piquer-Gibert M., Plebani A., Proietti M., Rae W., Roifman C.M., Schejter Y.D., Schmidt R.E., Schröder C., Seidl M., Seppänen M.R.J., Shadur B., Shcherbina A., Slade C.A., Stepensky P., Svec P., Syrjänen J., Thaventhiran J.E.D., Tuijnenburg P., van der Flier M., van der Meer J.W.M., Varjosalo M., Warnatz K., Weintraub L., Zakharova V.Fuentes:scopusAutoimmune regulator (AIRE) contributes to Dectin-1-induced TNF-α production and complexes with caspase recruitment domain-containing protein 9 (CARD9), spleen tyrosine kinase (Syk), and Dectin-1
ArticleAbstract: Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome is a coPalabras claves:chronic mucocutaneous candidiasis, innate immunity, monocytes, Primary immunodeficiencyAutores:Banerjee P.P., Condino-Neto A., De Moraes Vasconcelos D., Jyonouchi H., Jyonouchi S., Kumar V., Luis Alberto Pedroza, Mace E.M., Nadeau K., Niinikoski H., Orange J.S., Perez E., Ruuskanen O., Sanborn K.B.Fuentes:scopusDiagnosis of primary immunodeficiency diseases in the developing world: The need for education and networking with the developed world
ReviewAbstract: Purpose of review Even with the evident improvement in knowledge about clinical and molecular aspectPalabras claves:Flow cytometry, Latin American Society of Immunodeficiencies, Medical Education, next-generation sequencing, primary immunodeficiency diagnosisAutores:Luis Alberto Pedroza, Maria Fernanda VillavicencioFuentes:scopusDiapocynin versus apocynin as pretranscriptional inhibitors of NADPH oxidase and cytokine production by peripheral blood mononuclear cells
ArticleAbstract: Apocynin has been extensively used as an inhibitor of NADPH oxidase (NOX) in many experimental modelPalabras claves:Apocynin, Diapocynin, gp91 phox, IL-10, NADPH oxidase, TNF-αAutores:Condino-Neto A., da Fonseca L., de Almeida A., Kanegae M., Luis Alberto Pedroza, Rehder J., Ximenes V.Fuentes:scopusFirst case of CD40LG deficiency in Ecuador, diagnosed after whole exome sequencing in a patient with Severe Cutaneous Histoplasmosis
ArticleAbstract: Severe infections with Histoplasma capsulatumare commonly observed in patient with secondary immunodPalabras claves:CD40LG, Histoplasmosis, Hyper-IgM syndrome, Primary immunodeficiency diseases, Whole exome sequencingAutores:Akdemir Z.C., Chinn I.K., Jhangiani S.N., Luis Alberto Pedroza, Lupski J.R., Muñoz G., Nina Guerrero, Orange J.S., Roque Macias, Stray-Pedersen A., Tafur C., Watkin L.B.Fuentes:scopusHuman leucocytes response to viable, extended freeze-drying or heat-killed Mycobacterium bovis bacillus Calmette-Guérin
ArticleAbstract: We investigated the effects of viable, extended freeze-drying (EFD) or heat-killed (HK) MycobacteriuPalabras claves:Autores:Aragão-Filho W.C., Barbosa S.M., Barillas S.G., Condino-Neto A., Luis Alberto Pedroza, Moreira J.Fuentes:scopusPrimary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
ArticleAbstract: Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous diPalabras claves:copy number variants, Primary immunodeficiency disease, whole-exome sequencingAutores:Abbott J., Abhyankar H.A., Abrahamsen T.G., Aiuti A., Aldave-Becerra J.C., Allen C.E., Artac H., Atik M.M., Aukrust P., Bayer D.K., Bayram Y., Bechensteen A.G., Beck C.R., Belmont J.W., Bertuch A.A., Bezrodnik L., Boerwinkle E., Boone P.M., Burstedt M., Caldirola M.S., Caldwell J.W., Cancrini C., Canter D.L., Cao T.N., Chan A.Y., Chinen J., Chinn I.K., Coban-Akdemir Z.H., Davis C.M., Dybedal I., Ehlayel M.S., Eldomery M.K., Eng C.M., Erichsen H.C., Espinosa Rosales F.J., Fevang B., Flatø B., Forbes L.R., Franco J.L., Gambin T., Gedde-Dahl T., Gibbs R.A., Gu S., Hanson I.C., Heimdal K.R., Hjorth-Hansen H., Holmberg E., Hu J., Issekutz A.C., Issekutz T.B., Jhangiani S.N., Jolles S., Jørgensen S.F., Karaca E., Kulseth M.A., Lugo Reyes S.O., Luis Alberto Pedroza, Lupski J.R., Lyle R., Mace E.M., Muzny D.M., Nicholas S.K., Nina Denisse Guerrero-Cursaru, Nordøy I., Noroski L.M., Orange J.S., Osnes L.T.N., Poli C.M., Prescott T.E., Rider N.L., Rustad C.F., Rødningen O.K., Samarakoon P., Seeborg F.O., Shearer W.T., Sheng Y., Skogen V., Smith E.A., Sorte H.S., Stray-Pedersen A., Tjønnfjord G.E., Trujillo Vargas C.M., Vece T.J., Walkiewicz M., West C., Wiszniewski W., Wong L.J., Wright N., Yang Y., Yesil G., Yuan B., Zhang V.W., Øverland T.Fuentes:scopusPro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING
ArticleAbstract: The cellular sensor stimulator of interferon genes (STING) initiates type I interferon (IFN) and cytPalabras claves:AMPK inhibitor, Autoimmune Disease, gain-of-function mutation, inflammatory disease, Sting, STING inhibitor, type I interferonopathy, ULK1 phosphorylationAutores:Alejandra Mendoza, Barber G.N., Chinn I.K., Hong D.N., Konno H., Luis Alberto Pedroza, Lupski J.R., Orange J.S.Fuentes:scopusThe Autoimmune Regulator (AIRE), which is defective in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients, is expressed in human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17
ArticleAbstract: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome, which is caused byPalabras claves:Autores:Condino-Neto A., Cotsarelis G., Kumar V., Luis Alberto Pedroza, Mace E.M., Orange J.S., Payne A., Seeholzer S.Fuentes:scopusThe role of AIRE in the immunity against Candida albicans in a model of human macrophages
ArticleAbstract: Autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a primary immunodeficiencPalabras claves:AIRE, APECED, c. albicans, Dectin receptor, Hyphae, Macrophages, Receptor recruitmentAutores:Arslanian C., Banerjee P.P., Barbosa-Carvalho M.U.W., Câmara N.O.S., Castold A., Condino-Neto A., Correia-Deur J.E.d.M., de Albuquerque J.A.T., Dias-da-Silva M.R., Lazaretti-Castro M., Luis Alberto Pedroza, Ma R., Mace E.M., Orange J.S., Weiler F.G., Ynoue L.H., Zurro N.B.Fuentes:scopus