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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:scopusBrain injury in COVID-19 is associated with dysregulated innate and adaptive immune responses
ArticleAbstract: COVID-19 is associated with neurological complications including stroke, delirium and encephalitis.Palabras claves:Autoantibodies, Brain injury, covid-19, neuroinflammationAutores:Allinson K., Allison J., Alvio G., Ansaripour A., Anwar F., Ashton N.J., Baker S., Barcenas-Morales G., Bergamaschi L., Bermperi A., Betancourt A., Bhatti J., Biggs H., Bong S.H., Bower G., Bradley J.R., Breen G., Brookes K., Bucke A., Bullman B., Bullmore E.T., Bunclark K., Burnstein R.M., Butcher H., Caddy S., Calder J., Caller L., Canna L., Caputo D., Cavanagh J., Chandler M., Chatfield D.A., Chaudhry Y., Chinnery P.F., Christmas D., Clapham-Riley D., Coles A.J., Coles J.P., Cooper D., Correia M., Cossetti C., Crucusio C., Das T., Digby R.J., Doffinger R., Dunai C., Dunning J., Ebrahimi S., Edé A., Elmer A., Emma Jones, Fletcher P.C., Fonseca C., Gisslé M., Griffiths M.J., Irani S.R., Jubb A.W., Kingston N., Leibowitz M.M., Lupson V.C., Lyons P.A., Manktelow A.E., Marklund E., Menon D.K., Michael B.D., Michell A., Needham E.J., Newcombe V.F.J., Norton E.J., Openshaw P.J.M., Outtrim J.G., Pointon L., Ren A.L., Rodgers C.T., Rowe J.B., Rua C., Samanta R.J., Sithole N., Smith K.G.C., Spindler L.R.B., Stamatakis E.A., Summers C., Taams L.S., Taussig M.J., Taylor J., Valerio F., Widmer B., Williams G.B., Zetterberg H.Fuentes:scopus