Documentos de Stray-Pedersen A. | REDI

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Filtros aplicados

Área temáticas: "Enfermedades"

Subtipo de publicación

Publisher

Frontiers in Pediatrics(1)

Journal of Allergy and Clinical Immunology(1)

Área temáticas

Anatomía humana, citología, histología(1)

Ginecología, obstetricia, pediatría, geriatría(1)

Microorganismos, hongos y algas(1)

Área de conocimiento

Inmunología(2)

Medicina interna(1)

Año de Publicación

Origen

Palabras Claves

Histoplasmosis(1)

Hyper-IgM syndrome(1)

Primary immunodeficiency disease(1)

Primary immunodeficiency diseases(1)

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis

Abstract: The HLH-2004 criteria are used to diagnose hemophagocytic lymphohistiocytosis (HLH), yet concern exi

Palabras claves:

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.

First case of CD40LG deficiency in Ecuador, diagnosed after whole exome sequencing in a patient with Severe Cutaneous Histoplasmosis

Abstract: Severe infections with Histoplasma capsulatumare commonly observed in patient with secondary immunod

Palabras claves:

CD40LG, Histoplasmosis, Hyper-IgM syndrome, Primary immunodeficiency diseases, Whole exome sequencing

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.

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.