Documentos de Mace E.M. | 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(1)

Fisiología humana(1)

Microorganismos, hongos y algas(1)

Área de conocimiento

Inmunología(2)

Año de Publicación

Origen

Palabras Claves

Primary immunodeficiency(1)

Primary immunodeficiency disease(1)

chronic mucocutaneous candidiasis(1)

copy number variants(1)

innate immunity(1)

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.