Documentos de Luis Alberto Pedroza | REDI

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Filtros aplicados

Publisher: "Journal of Allergy and Clinical Immunology"

Subtipo de publicación

Área temáticas

Anatomía humana, citología, histología(2)

Enfermedades(2)

Fisiología humana(1)

Microorganismos, hongos y algas(1)

Área de conocimiento

Inmunología(3)

Año de Publicación

Origen

Palabras Claves

Autosomal dominant(1)

NF-κB1-related phenotype(1)

NFKB1 mutation(1)

NFKB1 variant(1)

Primary immunodeficiency(1)

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Abstract: Background: An increasing number of NFKB1 variants are being identified in patients with heterogeneo

Palabras claves:

Autosomal dominant, common variable immunodeficiency, NF-κB1-related phenotype, NFKB1 mutation, NFKB1 variant, reduced penetrance

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.

Autoimmune 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

Abstract: Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome is a co

Palabras claves:

chronic mucocutaneous candidiasis, innate immunity, monocytes, Primary immunodeficiency

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.

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Abstract: Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous di

Palabras claves:

copy number variants, Primary immunodeficiency disease, whole-exome sequencing

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.