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Article(7)
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American Journal of Pathology(1)
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Frontiers in Pediatrics(1)
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scopus(7)
Genetic 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:scopusSchistosomiasis induces persistent DNA methylation and tuberculosis-specific immune changes
ArticleAbstract: Epigenetic mechanisms, such as DNA methylation, determine immune cell phenotype. To understand the ePalabras claves:Autores:Bhalla K.N., Coarfa C., DiNardo A.R., Graviss E.A., Kay A.W., Mace E.M., Makedonas G., Mandalakas A.M., Maphalala G., Mtetwa G., Nishiguchi T., Orange J.S., Rajapakshe K., Rojelio Mejia, Secor W.E.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