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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:scopusDelineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
ArticleAbstract: Purpose: Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disoPalabras claves:Autores:Alders M., Allen N.M., Arold S.T., Banka S., Banu S.H., Baptista J., Barakat T.S., Barge-Schaapveld D.Q.C.M., Baud R., Braddock S.R., Cardona-Londoño K.J., Chinn I.K., Crunk A., de Vries B.B.A., Deardorff M.A., Efthymiou S., Elloumi H.Z., Elting M.W., Galehdari H., Garza-Flores A., Gilissen C., Guerrini R., Guzmán-Vega F.J., Haghshenas S., Hamm J.A., Harrison V., Houlden H., Huang S., Jackson A., Järvelä I., Jewett T., Kehoe C.M., Keller-Ramey J., Kerkhof J., Kievit A., Klemp K.C., Koboldt D.C., Koning S., Lanko K., Lauronen L., Leal S.M., Lees M., Lin X., Luis Alberto Pedroza, Lupski J.R., Lynch S.A., Määttä T., Maroofian R., Mazaheri N., McBride K.L., McConkey H., McGlothlin J., Merritt J.L., Mirzaa G.M., Mohammed S., Monaghan K.G., Montomoli M., Mosher T.M., Pan Z., Pang L., Pastore M.T., Peeters-Scholte C.M.P.C.D., Peña-Guerra K.A., Peng J., Person R.E., Pfundt R., Polstra A.M., Putnam A.M., Quindipan C., Ramakrishnan R., Reich A., Robinson H.K., Rosso G., Ruivenkamp C.A.L., Ruzhnikov M.R.Z., Sadikovic B., Scheck J., Schenck L., Schrauwen I., Sisodiya S.M., Sun A., Thies J., Timms A.E., Turnpenny P.D., van Bever Y., van Gijn M.E., van Paassen B.W., van Slegtenhorst M., Vansenne F., Vetro A., Walsh L., Wang X., Weerts M.J.A., Willemsen M., Yana Lara-Taranchenko, Yang L., Zaman M.Fuentes:scopusFunctional repair assay for the diagnosis of constitutional mismatch repair deficiency from non-neoplastic tissue
ArticleAbstract: PURPOSE Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer pbkp_redisposPalabras claves:Autores:Alharbi M., Aronson M., Bernstein M., Bouffet E., Bowers D.C., Campbell B.B., Carroll S., Cole K.A., Constantini S., Crooks B., Damme A.V., Durno C., Dvir R., Edwards M., Farah R., Foulkes W.D., Gallinger S., George B., Hijiya N., Laetsch T.W., Lanni S., Larouche V., Lee Y.Y., Lindhorst S., Luis Alberto Pedroza, Luiten R.C., Magimairajan V., Malkin D., Mandel A., Mason G., Mason W., Mordechai O., Mushtaq N., Nicholas G., Oren M., Palma L., Panigrahi G.B., Pearson C.E., Ramdas J., Samuel D., Schneider K.W., Seeley A., Semotiuk K., Shamvil A., Shuen A.Y., Sumerauer D., Tabori U., Toledano H., Tomboc P., Wierman M.E., Yu L., Zapotocky M., Zhang C., Zhukova N.Fuentes:scopusGenetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis
ArticleAbstract: The HLH-2004 criteria are used to diagnose hemophagocytic lymphohistiocytosis (HLH), yet concern exiPalabras claves:Autores:Abhyankar H.A., Al-Herz W., Aldave-Becerra J.C., Allen C.E., Bashir D.A., Cao T.N., Cecilia Poli M., Chamdin A., Chinn I.K., Coban-Akdemir Z.H., Diaz M.I., Eckstein O.S., Forbes L.R., Gibbs R.A., Goldberg B.R., Goldman J.R., Heslop H.E., Hong D.N., Jhangiani S.N., Krance R.A., Luis Alberto Pedroza, Lupski J.R., Mace E.M., Martinez C.A., McClain K.L., McGhee S.A., Muzny D.M., Nguyen T.C., Nicholas S.K., Orange J.S., Peckham-Gregory E.C., Stray-Pedersen A., Vogel T.P.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:scopusHigh-performance liquid chromatography under partially denaturing conditions (dHPLC) is a fast and cost-effective method for screening molecular defects: Four novel mutations found in X-linked chronic granulomatous disease
ArticleAbstract: Implementing precise techniques in routine diagnosis of chronic granulomatous disease (CGD), which ePalabras claves:Autores:Arango J.C., Bustamante J., Buzolin M., Condino-Neto A., Costa-Carvalho B.T., Dantas V.M., de Oliveira-Junior E.B., Frazão J.B., Grumach A.S., Lopez J.A., Luis Alberto Pedroza, Prando C., Rehder J., Roxo-Junior P.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:scopus