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1Academic Journal
المؤلفون: McDonnell, J, Cousins, K, Younger, MEM, Lane, A, Abolhassani, H, Abraham, RS, Al-Tamemi, S, Aldave-Becerra, JC, Al-Faris, EH, Alfaro-Murillo, A, Alkhater, SA, Alsaati, N, Doss, AMA, Anderson, M, Angarola, E, Ariue, B, Arnold, DE, Assa'ad, AH, Aytekin, C, Bank, M, Bergerson, JRE, Bleesing, J, Boesing, J, Bouso, C, Brodszki, N, Cabanillas, D, Cady, C, Callahan, MA, Caorsi, R, Carbone, J, Carrabba, M, Castagnoli, R, Catanzaro, JR, Chan, SMT, Chandra, S, Chapdelaine, H, Chavoshzadeh, Z, Chong, HJ, Connors, L, Consonni, F, Correa-Jimenez, O, Cunningham-Rundles, C, D'Astous-Gauthier, K, Delmonte, OM, Demirdag, YY, Deshpande, DR, Diaz-Cabrera, NM, Dimitriades, VR, El-Owaidy, R, Elghazali, G, Al-Hammadi, S, Fabio, G, Faure, AS, Feng, J, Fernandez, JM, Fill, L, Franco, GR, Frenck, RW, Fuleihan, RL, Giardino, G, Galant-Swafford, J, Gambineri, E, Garabedian, EK, Geerlinks, AV, Goudouris, E, Grecco, O, Pan-Hammarstrom, Q, Khani, HHK, Hammarstrom, L, Hartog, NL, Heimall, J, Hernandez-Molina, G, Horner, CC, Hostoffer, RW, Hristova, N, Hsiao, KC, Ivankovich-Escoto, G, Jaber, F, Jalil, M, Jamee, M, Jean, T, Jeong, S, Jhaveri, D, Jordan, MB, Joshi, AY, Kalkat, A, Kanarek, HJ, Kellner, ES, Khojah, A, Khoury, R, Kokron, CM, Kumar, A, Lecerf, K, Lehman, HK, Leiding, JW, Lesmana, H, Lim, XR, Lopes, JP, Lopez, AL, Tarquini, L, Lundgren, IS, Magnusson, J, Marinho, AKBB, Marseglia, GL, Martone, GM, Mechtler, AG, Mendonca, L, Milner, JD, Mustillo, PJ, Naderi, AG, Naviglio, S, Nell, J, Niebur, HB, Notarangelo, L, Oleastro, M, Ortega-Lopez, MC, Patel, NR, Petrovic, G, Pignata, C, Porras, O, Prince, BT, Puck, JM, Qamar, N, Rabusin, M, Raje, N, Regairaz, L, Risma, KA, Ristagno, EH, Routes, J, Roxo-Junior, P, Salemi, N, Scalchunes, C, Schuval, SJ, Seneviratne, SL, Shankar, A, Sherkat, R, Shin, JJ, Siddiqi, A, Signa, S, Sobh, A, Lima, FMS, Stenehjem, KK, Tam, JS, Tang, MNC, Barros, MT, Verbsky, J, Vergadi, E, Voelker, DH, Volpi, S, Wall, LA, Wang, C, Williams, KW, Wu, EY, Wu, SS, Zhou, JJ, Cook, A, Sullivan, KE, Marsh, R
المصدر: Journal of clinical immunology. 44(4):86
مصطلحات موضوعية: Medicin och hälsovetenskap
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2Academic Journal
المؤلفون: Dimitrova, D, Nademi, Z, Maccari, ME, Ehl, S, Uzel, G, Tomoda, T, Okano, T, Imai, K, Carpenter, B, Ip, W, Rao, K, Worth, AJJ, Laberko, A, Mukhina, A, Neven, B, Moshous, D, Speckmann, C, Warnatz, K, Wehr, C, Abolhassani, H, Aghamohammadi, A, Bleesing, JJ, Dara, J, Dvorak, CC, Ghosh, S, Kang, HJ, Markelj, G, Modi, A, Bayer, DK, Notarangelo, LD, Schulz, A, Garcia-Prat, M, Soler-Palacin, P, Karakukcu, M, Yilmaz, E, Gambineri, E, Menconi, M, Masmas, TN, Holm, M, Bonfim, C, Prando, C, Hughes, S, Jolles, S, Morris, EC, Kapoor, N, Koltan, S, Paneesha, S, Steward, C, Wynn, R, Duffner, U, Gennery, AR, Lankester, AC, Slatter, M, Kanakry, JA
المصدر: The Journal of allergy and clinical immunology. 149(1):410
مصطلحات موضوعية: Medicin och hälsovetenskap
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3Academic Journal
المؤلفون: Dickinson, RE, Milne, P, Jardine, L, Zandi, S, Swierczek, SI, McGovern, N, Cookson, S, Ferozepurwalla, Z, Langridge, A, Pagan, S, Gennery, A, Heiskanen-Kosma, T, Hamalainen, S, Seppanen, M, Helbert, M, Tholouli, E, Gambineri, E, Reykdal, S, Gottfredsson, M, Thaventhiran, JE, Morris, E, Hirschfield, G, Richter, AG, Jolles, S, Bacon, CM, Hambleton, S, Haniffa, M, Bryceson, Y, Allen, C, Prchal, JT, Dick, JE, Bigley, V, Collin, M
المصدر: Blood. 123(6):863-874
مصطلحات موضوعية: Medicin och hälsovetenskap
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4Academic Journal
المؤلفون: Consonni F., Coniglio M. L., Martini B., Santoro R., Chinnici A., Beneforti L., Allegro E., Bambi F., Brugnolo F., Cuzzubbo D., Ermini S., Frenos S., Pegoraro F., Sanvito M. C., Tintori V., Trambusti I., Favre C., Sieni E., Gambineri E.
المساهمون: Consonni, F, Coniglio, M, Martini, B, Santoro, R, Chinnici, A, Beneforti, L, Allegro, E, Bambi, F, Brugnolo, F, Cuzzubbo, D, Ermini, S, Frenos, S, Pegoraro, F, Sanvito, M, Tintori, V, Trambusti, I, Favre, C, Sieni, E, Gambineri, E
مصطلحات موضوعية: Antigens, CD19, Chimerism, Graft vs Host Disease, Hematopoietic Stem Cell Transplantation, Human, Receptors, Antigen, T-Cell, alpha-beta, T-Lymphocyte, Tissue Donor, Transplantation Conditioning
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/38129595; info:eu-repo/semantics/altIdentifier/wos/WOS:001127428300021; volume:44; issue:1; journal:JOURNAL OF CLINICAL IMMUNOLOGY; https://hdl.handle.net/10281/510421; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85180511040
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5Electronic Resource
المؤلفون: Vallée, T, Glasmacher, J, Buchner, H, Arkwright, P, Behrends, U, Bondarenko, A, Browning, M, Buchbinder, D, Cattoni, A, Chernyshova, L, Ciznar, P, Cole, T, Czogala, W, Dueckers, G, Edgar, J, Erbey, F, Fasth, A, Ferrua, F, Formankova, R, Gambineri, E, Gennery, A, Goldman, F, Gonzalez-Granado, L, Heilmann, C, Heiskanen-Kosma, T, Juntti, H, Kainulainen, L, Kanegane, H, Karaca, N, Sebnem Kilic, S, Klein, C, Koltan, S, Kondratenko, I, Meyts, I, Nasrullayeva, G, Notarangelo, L, Pasic, S, Pellier, I, Pignata, C, Misbah, S, Schulz, A, Segundo, G, Shcherbina, A, Slatter, M, Sokolic, R, Soler-Palacin, P, Stepensky, P, van Montfrans, J, Ryhänen, S, Wolska-Kuśnierz, B, Ziegler, J, Zhao, X, Aiuti, A, Ochs, H, Albert, M, Vallée, Tanja C, Glasmacher, Jannik S, Buchner, Hannes, Arkwright, Peter D, Behrends, Uta, Bondarenko, Anastasia, Browning, Michael J, Buchbinder, David K, Cattoni, Alessandro, Chernyshova, Liudmyla, Ciznar, Peter, Cole, Theresa, Czogala, Wojciech, Dueckers, Gregor, Edgar, John David M, Erbey, Fatih, Fasth, Anders, Ferrua, Francesca, Formankova, Renata, Gambineri, Eleonora, Gennery, Andrew R, Goldman, Frederick D, Gonzalez-Granado, Luis Ignacio, Heilmann, Carsten, Heiskanen-Kosma, Tarja, Juntti, Hanna, Kainulainen, Leena, Kanegane, Hirokazu, Karaca, Neslihan E., Sebnem Kilic, Sara, Klein, Christoph, Koltan, Sylwia, Kondratenko, Irina, Meyts, Isabelle, Nasrullayeva, Gulnara M, Notarangelo, Lucia Dora, Pasic, Srdjan, Pellier, Isabelle, Pignata, Claudio, Misbah, Siraj Ahmed, Schulz, Ansgar S, Segundo, Gesmar RS, Shcherbina, Anna, Slatter, Mary A, Sokolic, Robert, Soler-Palacin, Pere, Stepensky, Polina, van Montfrans, Joris M., Ryhänen, Samppa, Wolska-Kuśnierz, Beata, Ziegler, John B, Zhao, Xiaodong, Aiuti, Alessandro, Ochs, Hans D, Albert, Michael H
مصطلحات الفهرس: Wiskott-Aldrich syndrome, info:eu-repo/semantics/article
URL:
https://hdl.handle.net/10281/471719
info:eu-repo/semantics/altIdentifier/pmid/38579284
info:eu-repo/semantics/altIdentifier/wos/WOS:001272893400001
volume:143
issue:24
firstpage:2504
lastpage:2516
journal:BLOOD -
6Academic Journal
المؤلفون: Vallee TC, Glasmacher JS, Buchner H, Arkwright PD, Behrends U, Bondarenko A, Browning MJ, Buchbinder D, Cattoni A, Chernyshova L, Ciznar P, Cole T, Czogala W, Dueckers G, Edgar JDM, Erbey F, Fasth A, Ferrua F, Formankova R, Gambineri E, Gennery AR, Goldman FD, Gonzalez-Granado LI, Heilmann C, Heiskanen-Kosma T, Juntti H, Kainulainen L, Kanegane H, Karaca NE, Sebnem Kilic S, Klein C, Koltan S, Kondratenko I, Meyts I, Nasrullayeva GM, Notarangelo LD, Pasic S, Pellier I, Pignata C, Misbah S, Schulz A, Segundo GR, Shcherbina A, Slatter M, Sokolic R, Soler-Palacin P, Stepensky P, van Montfrans JM, Ryhanen S, Wolska-Kusnierz B, Ziegler JB, Zhao X, Aiuti A, Ochs HD, Albert MH
المصدر: Blood, 2024
Relation: https://eprints.ncl.ac.uk/298709
الاتاحة: https://eprints.ncl.ac.uk/298709
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7Academic Journal
المؤلفون: Hägele, P., Staus, P., Scheible, R., Uhlmann, A., Heeg, M., Klemann, C., Maccari, M.E., Ritterbusch, H., Armstrong, M., Cutcutache, I., Elliott, K.S., von Bernuth, H., Leahy, T.R., Leyh, J., Holzinger, D., Lehmberg, K., Svec, P., Masjosthusmann, K., Hambleton, S., Jakob, M., Sparber-Sauer, M., Kager, L., Puzik, A., Wolkewitz, M., Lorenz, M.R., Schwarz, K., Speckmann, C., Rensing-Ehl, A., Ehl, S., group, A.S., Abinun, M., Abrahamsen, T., Albert, M., Almalky, M., Altaf, S., Babayeva, R., Bakhtiar, S., Baris, S., Baumann, U., Becker, M., Berger, T., Biebl, A., Bielack, S., Biskup, S., Bismarck, P., Bode, S., Borchers, R., Boztug, C.F., Brockmann, K., Bruwier, A., Buchholz, B., Cant, A., Castro, C.N., Classen, C., Claviez, A., Crazzolara, R., Cuntz, F., Dąbrowska-Leonik, N., Derichs, U., Dückers, G., Eberl, W., Ebetsberger-Dachs, G., Erlacher, M., Fabre, A., Faletti, L., Farmand, S., Figueiredo, A., Fischer, M., Flaadt, T., Full, H., Gambineri, E., Girschick, H., Goldacker, S., Grimbacher, B., Groß, M., Gruhn, A.J., Gungoren, E., Haberfellner, F., Hague, R., Hauch, H., Hauck, F., Heine, S., Huisman, E., Jakovljevic, G., James, B., Janda, A., Janda, M., Jones, N., Kaiser-Labusch, P., Kentouche, K., Knight, J., Knirsch, S., Kontny, U., Körholz, J., Krenn, E.Y., Kuehnle, I., Kühne, T., Lee-Dimroth, J.-Y., Lehmann, H., Leipold, M.H., Meinhardt, A., Mönkemöller, K., Morbach, H., Mücke, U., Nathrath, M., Naumann-Bartsch, N., Neth, O., Niemeyer, C., Olbrich, P., Ostró, R., Owens, S., Pac, M., Schmid, R.P., Page, M.G., Pekrun, A., Prader, S., Proietti, M., Rajacic, N., Rothoeft, T., Ryan, F.H., Salou, S., Salzer, E., Savic, S., Schilling, A.E., Schmid, J., Schönberger, S., Schuetz, C., Schuez-Havupalo, T.G., Schulte, B., Schulz, A., Schuster, V., Seidel, M., Siepermann, K., Smisek, P., Soomann, M., Stiefel, M., Storck, S., Strahm, B., Streiter, E.J., Teltschik, C.M., Thalhammer, J., Tippelt, S., Toskov, V., Trück, J., Vieth, S., Wegehaupt, O., Wiesel, T.
Relation: Hägele, P., Staus, P., Scheible, R. et al. (146 more authors) (2024) Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study. The Lancet Haematology, 11 (2). e114-e126. ISSN 2451-9960
الاتاحة: https://eprints.whiterose.ac.uk/217949/
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8Academic Journal
المؤلفون: Leiding, J. W., Vogel, T. P., Santarlas, V. G. J., Mhaskar, R., Smith, M. R., Carisey, A., Vargas-Hernandez, A., Silva-Carmona, M., Heeg, M., Rensing-Ehl, A., Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, S., Leahy, T. R., Van Hagen, M., Cunningham-Rundles, C., Dutmer, C. M., Sharapova, S. O., Taskinen, M., Chua, I., Hague, R., Klemann, C., Kostyuchenko, L., Morio, T., Thatayatikom, A., Ozen, A., Scherbina, A., Bauer, C. S., Flanagan, S. E., Gambineri, E., Giovannini-Chami, Lisa, Heimall, J., Sullivan, K. E., Allenspach, E., Romberg, N., Deane, S. G., Prince, B. T., Rose, M., Bohnsack, J., Mousallem, T., Jesudas, R., Dos Santos Vilela, M. M., O'sullivan, M., Schmid, J. P., Průhová, Š., Rees, M., Su, H., Bahna, S., Baris, S., Bartnikas, L. M., Chang Berger, A., Briggs, T. A., Brothers, S., Bundy, V., Chan, A. Y., Chandrakasan, S., Christiansen, M., Cole, T., Cook, M. C., Desai, M. M., Fischer, U., Fulcher, D. A., Gallo, S., Gauthier, A., Gennery, A. R., Marques, J. G., Gottrand, fréderic, Grimbacher, B., Grunebaum, E., Haapaniemi, E., Hämäläinen, S., Heiskanen, K., Heiskanen-Kosma, T., Hoffman, H. M., Gonzalez-Granado, L. I., Guerreiro, A. L., Kainulainen, L., Kumar, A., Lawrence, M. G., Levin, C., Martelius, T., Neth, O., Olbrich, P., Palma, A., Patel, N. C., Pozos, T., Preece, K., Lugo Reyes, S. O., Russell, M. A., Schejter, Y., Seroogy, C., Sinclair, J., Skevofilax, E., Suan, D., Suegeorgz, D., Szabolcs, P., Velasco, H., Warnatz, K., Walkovich, K., Worth, A., Seppänen, M. R. J., Torgerson, T. R., Sogkas, G., Ehl, S., Tangye, S. G., Cooper, M. A., Milner, J. D., Forbes Satter, L. R., Aleshkevich, S., Allende, L. M., Atkinson, T. P., Atschekzei, F., Aydemir, S., Aygunes, U., Barlogis, V., Baumann, U., Belko, J., Bezrodnik, L., Biebl, A., Broderick, L., Bunin, N. J., Caldirola, M. S., Castelle, M., Celmeli, F., Charbonnier, L. M., Chatila, T. A., Chellapandian, D., Cokugras, H., Conlon, N., Cox, F., Crickx, E., Dalgic, B., Dalm, V. A., Danielian, S., Dominguez-Pinilla, N., Dujovny, T., Ebbo, M., Eken, A., Esty, B., Fabre, A., Fischer, A., Hannibal, M., Huppert, L., Ikeda, M. D., Jolles, S., Jolly, K. W., Jones, N., Kakakukcu, M., Kanariou, M., Karakoc-Aydiner, E., Karamantziani, T., Kelaidi, C., Keogan, M., Kisaarslan, A. P., Kiykim, A., Klocperk, A., Kotsonis, K., Kuzmenko, N., Leroy, S., Lesmana, H., Lianou, D., Longhurst, H., Lorenz, M. R., Maffucci, P., Manson, A., Marchal, S., Malphettes, M., Marega, L. F., Mauracher, A. A., Meesilpavikai, K., Miller, H., Mombourquette, J., Morgan, N. G., Mukhina, A., Nathalie, A., Nelken, B., Nolan, D., Norlin, A. C., Oleastro, M., Ozcan, A., Pasquet, M., Pegler, J. R., Picard, C., Polychronopoulou, S., Quartier, P., Ramakers, J., Randall, K. L., Rao, V. K., Remiker, A., Resin, G., Richmond, P., Rieux-Laucat, F., Rodina, Y., Rohrlich, P., Sachs, J., Sakovich, I., Santarlas, C., Sari, S., Sawicki, G., Schauer, U., Scheffler Mendoza, S. C., Schvetz, O., Schmidt, R. E., Schwarz, K., Sediva, A., Sinclair, K., Slatter, M., Sleasman, J., Stergiou, K., Suratannon, N., Tanita, K., Thompson, G., Travis, S., Trojan, T., Tsinti, M., Unal, E., Urdinez, L., Vazquez-Gomez, F., Villa, M., Weinrich, M., Weiss, M. J., Wright, B., Yilmaz, E., Zachova, R., Zhang, Y., Quesada, J. F.
المساهمون: Université de Lille, Inserm, CHU Lille, Imagine - Institut des maladies génétiques (IHU) Imagine - U1163, Centre Hospitalier Universitaire de Nice CHU Nice, Institute for Translational Research in Inflammation - U 1286 INFINITE (Ex-Liric)
مصطلحات موضوعية: STAT3, gain of function, lymphoproliferation, cytopenia, autoimmunity, immune dysregulation, immunodeficiency, precision medicine
وصف الملف: application/octet-stream
Relation: Journal of Allergy and Clinical Immunology; J Allergy Clin Immunol; http://hdl.handle.net/20.500.12210/100723
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9Academic Journal
المؤلفون: Lougaris V., Pession A., Baronio M., Soresina A., Rondelli R., Gazzurelli L., Benvenuto A., Martino S., Gattorno M., Biondi A., Zecca M., Marinoni M., Fabio G., Aiuti A., Marseglia G., Putti M. C., Agostini C., Lunardi C., Tommasini A., Bertolini P., Gambineri E., Consolini R., Matucci A., Azzari C., Danieli M. G., Paganelli R., Duse M., Cancrini C., Moschese V., Chessa L., Spadaro G., Civino A., Vacca A., Cardinale F., Martire B., Carpino L., Trizzino A., Russo G., Cossu F., Badolato R., Pietrogrande M. C., Quinti I., Rossi P., Ugazio A., Pignata C., Plebani A.
المساهمون: Lougaris, V., Pession, A., Baronio, M., Soresina, A., Rondelli, R., Gazzurelli, L., Benvenuto, A., Martino, S., Gattorno, M., Biondi, A., Zecca, M., Marinoni, M., Fabio, G., Aiuti, A., Marseglia, G., Putti, M. C., Agostini, C., Lunardi, C., Tommasini, A., Bertolini, P., Gambineri, E., Consolini, R., Matucci, A., Azzari, C., Danieli, M. G., Paganelli, R., Duse, M., Cancrini, C., Moschese, V., Chessa, L., Spadaro, G., Civino, A., Vacca, A., Cardinale, F., Martire, B., Carpino, L., Trizzino, A., Russo, G., Cossu, F., Badolato, R., Pietrogrande, M. C., Quinti, I., Rossi, P., Ugazio, A., Pignata, C., Plebani, A.
مصطلحات موضوعية: patient registry, Primary immunodeficiencies
Relation: info:eu-repo/semantics/altIdentifier/pmid/32803625; info:eu-repo/semantics/altIdentifier/wos/WOS:000560560100001; volume:40; issue:7; firstpage:1026; lastpage:1037; numberofpages:12; journal:JOURNAL OF CLINICAL IMMUNOLOGY; http://hdl.handle.net/11368/2970503; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089449489; https://link.springer.com/article/10.1007/s10875-020-00844-0#Fun
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10Academic Journal
المؤلفون: Dimitrova D, Nademi Z, Maccari ME, Ehl S, Uzel G, Tomoda T, Okano T, Imai K, Carpenter B, Ip W, Rao K, Worth AJJ, Laberko A, Mukhina A, Neven B, Moshous D, Speckmann C, Warnatz K, Wehr C, Abolhassani H, Aghamohammadi A, Bleesing JJ, Dara J, Dvorak CC, Ghosh S, Kang HJ, Markelj G, Modi A, Bayer DK, Notarangelo LD, Schulz A, Garcia-Prat M, Soler-Palacin P, Karakukcu M, Yilmaz E, Gambineri E, Menconi M, Masmas TN, Holm M, Bonfim C, Prando C, Hughes S, Jolles S, Morris EC, Kapoor N, Koltan S, Paneesha S, Steward C, Wynn R, Duffner U, Gennery AR, Lankester AC, Slatter M, Kanakry JA
المصدر: Journal of Allergy and Clinical Immunology, 2021
وصف الملف: application/pdf
Relation: https://eprints.ncl.ac.uk/275618; https://eprints.ncl.ac.uk/fulltext.aspx?url=275618/129CBB5E-F842-47D0-B3D6-7C54514EB530.pdf&pub_id=275618
الاتاحة: https://eprints.ncl.ac.uk/275618
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11Academic Journal
المؤلفون: Thalhammer J., Kindle G., Nieters A., Rusch S., Seppanen M. R. J., Fischer A., Grimbacher B., Edgar D., Buckland M., Mahlaoui N., Ehl S., Boztug K., Brunner J., Demel U. F., Forster-Waldl E., Gasteiger L. M., Goschl L., Kojic M., Schroll A., Seidel M. G., Wintergerst U., Wisgrill L., Sharapova S. O., Goffard J. -C., Kerre T., Meyts I., Roosens F., Smet J., Haerynck F., Eric Z. P., Milenova V., Gagro A., Richter D., Chovancova Z., Hlavackova E., Litzman J., Milota T., Sediva A., Elaziz D. A., Alkady R. S., El Sayed El Hawary R., Eldash A. S., Galal N., Lotfy S., Meshaal S. S., Reda S. M., Sobh A., Elmarsafy A., Brosselin P., Courteille V., De Vergnes N., Kracker S., Pergent M., Randrianomenjanahary P., Ahrenstorf G., Albert M. H., Ankermann T., Atschekzei F., Baumann U., Becker B. C., Behrends U., Belohradsky B. H., Biegner A. -K., Binder N., Bode S. F. N., Boesecke C., Boetticher B., Borte M., Borte S., Classen C. F., Dirks J., Duckers G., El-Helou S., Ernst D., Fasshauer M., Fecker G., Felgentreff K., Foell D., Ghosh S., Girschick H. J., Goldacker S., Graf N., Graf D., Greil J., Hanitsch L. G., Hauck F., Heeg M., Heine S. I., Henes J. C., Hoenig M., Holzer U., Holzinger D., Horneff G., Hundsdoerfer P., Jablonka A., Jakoby D., Joean O., Kaiser-Labusch P., Klemann C., Kobbe R., Korholz J., Kramm C. M., Kruger R., Landwehr-Kenzel S., Lehmberg K., Liese J. G., Lippert C. F., Maccari M. E., Masjosthusmann K., Meinhardt A., Metzler M., Morbach H., Muller I., Naumann-Bartsch N., Neubert J., Niehues T., Peter H. -H., Rieber N., Ritterbusch H., Rockstroh J. K., Roesler J., Schauer U., Scheible R., Schmalzing M., Schmidt R. E., Schneider D. T., Schreiber S., Schuetz C., Schulz A., Schulze-Koops H., Schulze-Sturm U., Schuster V., Schwaneck E. C., Schwarz K., Schwarze-Zander C., Sirin M., Skapenko A., Sogkas G., Sparber-Sauer M., Speckmann C., Steinmann S., Stiehler S., Tenbrock K., von Bernuth H., Warnatz K., Wasmuth J. -C., Weiss M., Witte T., Wittke K., Wittkowski H., Zeuner R. A., Farmaki E., Hatzistilianou M. N., Kakkas I., Kanariou M. G., Kapousouzi A., Liatsis E., Maggina P., Papadopoulou-Alataki E., Raptaki M., Speletas M., Tantou S., Goda V., Krivan G., Marodi L., Abolhassani H., Aghamohammadi A., Rezaei N., Feighery C., Leahy T. R., Ryan P., Batzir N. A., Garty B. Z., Tamary H., Aiuti A., Amodio D., Azzari C., Barzaghi F., Baselli L. A., Cancrini C., Carrabba M., Cazzaniga M., Cesaro S., Chinello M., Danieli M. G., Dellepiane R. M., Fabio G., Gambineri E., Lodi L., Lougaris V., Marasco C., Martire B., Marzollo A., Milito C., Moschese V., Pignata C., Plebani A., Porta F., Quinti I., Ricci S., Soresina A., Tommasini A., Vacca A., Vanessa C., Blaziene A., Sitkauskiene B., Gowin E., Heropolitanska-Pliszka E., Pietrucha B., Szaflarska A., Wiesik-Szewczyk E., Wolska-Kusnierz B., Esteves I., Faria E., Marques L. H., Neves J. F., Silva S. L., Teixeira C., Pereira da Silva S., Capilna B. R., Guseva M. N., Shcherbina A., Bobcakova A., Ciznar P., Gabzdilova J., Jesenak M., Kapustova L., Orosova J., Petrovicova O., Raffac S., Kopac P., Allende L. M., Antoli A., Blanch G. R., Carbone J., Dieli-Crimi R., Garcia-Prat M., Gil-Herrera J., Gonzalez-Granado L. I., Agullo P. L., Olbrich P., Parra-Martinez A., Paz-Artal E., Pleguezuelo D. E., Rodriguez N. S., Sanchez-Ramon S., Santos-Perez J. L., Solanich X., Soler-Palacin P., Gonzalez-Amores M., Ekwall O., Fasth A., Bitzenhofer-Gruber M., Candotti F., Dimitriou F., Heininger U., Holbro A., Jandus P., Kolios A. G. A., Marschall K., Schmid J. P., Posfay-Barbe K. M., Prader S., Reichenbach J., Steiner U. C., Truck J., Bredius R. G., de Kruijf- Bazen S., de Vries E., Henriet S. S. V., Kuijpers T. W., Potjewijd J., Rutgers A., Stol K., van Aerde K. J., Van den Berg J. M., van de Ven A. A. J. M., Montfrans J., Aydemir S., Baris S., Dogu F., Ikinciogullari A., Karakoc-Aydiner E., Kilic S. S., Kiykim A., Kokcu Karadag S. I., Kutukculer N., Ocak S., UNAL E., Boyarchuk O., Hilfanova A., Kostyuchenko L. V., Alachkar H., Arkwright P. D., Baxendale H. E., Bernatoniene J., Coulter T. I., Garcez T., Goddard S., Gompels M. M., Grigoriadou S., Herriot R., Herwadkar A., Huissoon A., Ibberson L., Nademi Z., Noorani S., Parvin S., Steele C. L., Thomas M., Waruiru C., Yong P. F. K., Bourne H.
المساهمون: Thalhammer, J., Kindle, G., Nieters, A., Rusch, S., Seppanen, M. R. J., Fischer, A., Grimbacher, B., Edgar, D., Buckland, M., Mahlaoui, N., Ehl, S., Boztug, K., Brunner, J., Demel, U. F., Forster-Waldl, E., Gasteiger, L. M., Goschl, L., Kojic, M., Schroll, A., Seidel, M. G., Wintergerst, U., Wisgrill, L., Sharapova, S. O., Goffard, J. -C., Kerre, T., Meyts, I., Roosens, F., Smet, J., Haerynck, F., Eric, Z. P., Milenova, V., Gagro, A., Richter, D., Chovancova, Z., Hlavackova, E., Litzman, J., Milota, T., Sediva, A., Elaziz, D. A., Alkady, R. S., El Sayed El Hawary, R., Eldash, A. S., Galal, N., Lotfy, S., Meshaal, S. S., Reda, S. M., Sobh, A., Elmarsafy, A., Brosselin, P., Courteille, V., De Vergnes, N., Kracker, S., Pergent, M., Randrianomenjanahary, P., Ahrenstorf, G., Albert, M. H., Ankermann, T., Atschekzei, F., Baumann, U., Becker, B. C., Behrends, U., Belohradsky, B. H., Biegner, A. -K., Binder, N., Bode, S. F. N., Boesecke, C., Boetticher, B., Borte, M., Borte, S., Classen, C. F., Dirks, J., Duckers, G., El-Helou, S., Ernst, D., Fasshauer, M., Fecker, G., Felgentreff, K., Foell, D., Ghosh, S., Girschick, H. J., Goldacker, S., Graf, N., Graf, D., Greil, J., Hanitsch, L. G., Hauck, F., Heeg, M., Heine, S. I., Henes, J. C., Hoenig, M., Holzer, U., Holzinger, D., Horneff, G., Hundsdoerfer, P., Jablonka, A., Jakoby, D., Joean, O., Kaiser-Labusch, P., Klemann, C., Kobbe, R.
مصطلحات موضوعية: autoimmune, immune dysregulation, inborn error of immunity, inflammatory, presenting symptom, Primary immunodeficiency, registry, syndromic, warning sign, Adult, Autoimmune Disease, Child, Cohort Studie, Female, Granuloma, Human, Infection, Lymphoproliferative Disorder, Male, Middle Aged, Primary Immunodeficiency Disease, Sex Factor, Age Factor, Registries
Relation: info:eu-repo/semantics/altIdentifier/pmid/33895260; info:eu-repo/semantics/altIdentifier/wos/WOS:000717466600004; volume:148; issue:5; firstpage:1332; lastpage:1341.e5; numberofpages:15; journal:JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY; http://hdl.handle.net/11368/3015341; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85106390447; https://www.sciencedirect.com/science/article/pii/S0091674921006540?via=ihub
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12Academic Journal
المؤلفون: Roncareggi S., Girardi K., Fioredda F., Pedace L., Arcuri L., Badolato R., Bonanomi S., Borlenghi E., Cirillo E., Coliva T., Consonni F., Conti F., Farruggia P., Gambineri E., Guerra F., Locatelli F., Mancuso G., Marzollo A., Masetti R., Micalizzi C., Onofrillo D., Piccini M., Pignata C., Raddi M. G., Santini V., Vendemini F., Biondi A., Saettini F.
المساهمون: Roncareggi S., Girardi K., Fioredda F., Pedace L., Arcuri L., Badolato R., Bonanomi S., Borlenghi E., Cirillo E., Coliva T., Consonni F., Conti F., Farruggia P., Gambineri E., Guerra F., Locatelli F., Mancuso G., Marzollo A., Masetti R., Micalizzi C., Onofrillo D., Piccini M., Pignata C., Raddi M.G., Santini V., Vendemini F., Biondi A., Saettini F.
مصطلحات موضوعية: GATA2 Deficiency, Hearing Loss, Sensorineural, Lymphedema, Myelodysplastic Syndrome, Primary Immunodeficiency Diseases
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/37837580; info:eu-repo/semantics/altIdentifier/wos/WOS:001082412300001; volume:43; issue:8; firstpage:2192; lastpage:2207; numberofpages:16; journal:JOURNAL OF CLINICAL IMMUNOLOGY; https://hdl.handle.net/11585/948373; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85174160525; https://link.springer.com/article/10.1007/s10875-023-01583-8
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13Academic Journal
المؤلفون: Barzaghi, F, Hernandez, LCA, Neven, B, Ricci, S, Kucuk, ZY, Bleesing, JJ, Nademi, Z, Slatter, MA, Ulloa, ER, Shcherbina, A, Roppelt, A, Worth, A, Silva, J, Aiuti, A, Murguia-Favela, L, Speckmann, C, Carneiro-Sampaio, M, Fernandes, JF, Baris, S, Ozen, A, Karakoc-Aydiner, E, Kiykim, A, Schulz, A, Steinmann, S, Notarangelo, LD, Gambineri, E, Lionetti, P, Shearer, WT, Forbes, LR, Martinez, C, Moshous, D, Blanche, S, Fisher, A, Ruemmele, FM, Tissandier, C, Ouachee-Chardin, M, Rieux-Laucat, F, Cavazzana, M, Qasim, W, Lucarelli, B, Albert, MH, Kobayashi, I, Alonso, L, De Heredia, CD, Kanegane, H, Lawitschka, A, Seo, JJ, Gonzalez-Vicent, M, Diaz, MA, Goyal, RK, Sauer, MG, Yesilipek, A, Kim, M, Yilmaz-Demirdag, Y, Bhatia, M, Khlevner, J, Padilla, EJR, Martino, S, Montin, D, Neth, O, Molinos-Quintana, A, Valverde-Fernandez, J, Broides, A, Pinsk, V, Ballauf, A, Haerynck, F, Bordon, V, Dhooge, C, Garcia-Lloret, ML, Bredius, RG, Kawak, K, Haddad, E, Seidel, MG, Duckers, G, Pai, S-Y, Dvorak, CC, Ehl, S, Locatelli, F, Goldman, F, Gennery, AR, Cowan, MJ, Roncarolo, M-G, Bacchetta, R
المصدر: Journal of Allergy and Clinical Immunology , 141 (3) 1036-1049.e5. (2018)
مصطلحات موضوعية: IPEX, primary immune deficiency, FOXP3, Treg cells, hematopoietic stem cell, transplantation, immunosuppression, rapamycin, enteropathy, neonatal diabetes, genetic autoimmunity
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10047458/1/1-s2.0-S0091674917318936-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10047458/
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14Academic Journal
المؤلفون: Leiding, J. W., Vogel, T. P., Santarlas, V. G. J., Mhaskar, R., Smith, M. R., Carisey, A., Vargas-Hernandez, A., Silva-Carmona, M., Heeg, M., Rensing-Ehl, A., Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, S., Leahy, T. R., van Hagen, M., Cunningham-Rundles, C., Dutmer, C. M., Sharapova, S. O., Taskinen, M., Chua, I., Hague, R., Klemann, C., Kostyuchenko, L., Morio, T., Thatayatikom, A., Ozen, A., Scherbina, A., Bauer, C. S., Flanagan, S. E., Gambineri, E., Giovannini-Chami, Lisa, Heimall, J., Sullivan, K. E., Allenspach, E., Romberg, N., Deane, S. G., Prince, B. T., Rose, M., Bohnsack, J., Mousallem, T., Jesudas, R., dos Santos Vilela, M. M., O'Sullivan, M., Schmid, J. P., Průhová, Š., Rees, M., Su, H., Bahna, S., Baris, S., Bartnikas, L. M., Chang Berger, A., Briggs, T. A., Brothers, S., Bundy, V., Chan, A. Y., Chandrakasan, S., Christiansen, M., Cole, T., Cook, M. C., Desai, M. M., Fischer, U., Fulcher, D. A., Gallo, S., Gauthier, A., Gennery, A. R., Marques, J. G., Gottrand, Fréderic, Grimbacher, B., Grunebaum, E., Haapaniemi, E., Hämäläinen, S., Heiskanen, K., Heiskanen-Kosma, T., Hoffman, H. M., Gonzalez-Granado, L. I., Guerreiro, A. L., Kainulainen, L., Kumar, A., Lawrence, M. G., Levin, C., Martelius, T., Neth, O., Olbrich, P., Palma, A., Patel, N. C., Pozos, T., Preece, K., Lugo Reyes, S. O., Russell, M. A., Schejter, Y., Seroogy, C., Sinclair, J., Skevofilax, E., Suan, D., Suegeorgz, D., Szabolcs, P., Velasco, H., Warnatz, K., Walkovich, K., Worth, A., Seppänen, M. R. J., Torgerson, T. R., Sogkas, G., Ehl, S., Tangye, S. G., Cooper, M. A., Milner, J. D., Forbes Satter, L. R., Aleshkevich, S., Allende, L. M., Atkinson, T. P., Atschekzei, F., Aydemir, S., Aygunes, U., Barlogis, V., Baumann, U., Belko, J., Bezrodnik, L., Biebl, A., Broderick, L., Bunin, N. J., Caldirola, M. S., Castelle, M., Celmeli, F., Charbonnier, L. M., Chatila, T. A., Chellapandian, D., Cokugras, H., Conlon, N., Cox, F., Crickx, E., Dalgic, B., Dalm, V. A., Danielian, S., Dominguez-Pinilla, N., Dujovny, T., Ebbo, M., Eken, A., Esty, B., Fabre, A., Fischer, A., Hannibal, M., Huppert, L., Ikeda, M. D., Jolles, S., Jolly, K. W., Jones, N., Kakakukcu, M., Kanariou, M., Karakoc-Aydiner, E., Karamantziani, T., Kelaidi, C., Keogan, M., Kisaarslan, A. P., Kiykim, A., Klocperk, A., Kotsonis, K., Kuzmenko, N., Leroy, S., Lesmana, H., Lianou, D., Longhurst, H., Lorenz, M. R., Maffucci, P., Manson, A., Marchal, S., Malphettes, M., Marega, L. F., Mauracher, A. A., Meesilpavikai, K., Miller, H., Mombourquette, J., Morgan, N. G., Mukhina, A., Nathalie, A., Nelken, B., Nolan, D., Norlin, A. C., Oleastro, M., Ozcan, A., Pasquet, M., Pegler, J. R., Picard, C., Polychronopoulou, S., Quartier, P., Ramakers, J., Randall, K. L., Rao, V. K., Remiker, A., Resin, G., Richmond, P., Rieux-Laucat, F., Rodina, Y., Rohrlich, P., Sachs, J., Sakovich, I., Santarlas, C., Sari, S., Sawicki, G., Schauer, U., Scheffler Mendoza, S. C., Schvetz, O., Schmidt, R. E., Schwarz, K., Sediva, A., Sinclair, K., Slatter, M., Sleasman, J., Stergiou, K., Suratannon, N., Tanita, K., Thompson, G., Travis, S., Trojan, T., Tsinti, M., Unal, E., Urdinez, L., Vazquez-Gomez, F., Villa, M., Weinrich, M., Weiss, M. J., Wright, B., Yilmaz, E., Zachova, R., Zhang, Y., Quesada, J. F.
المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre Hospitalier Universitaire de Nice (CHU Nice), Institute for Translational Research in Inflammation - U 1286 (INFINITE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)
المصدر: ISSN: 0091-6749 ; Journal of Allergy and Clinical Immunology ; https://hal.univ-lille.fr/hal-04515114 ; Journal of Allergy and Clinical Immunology, 2022, Journal of Allergy and Clinical Immunology, 151, pp.1081-1095. ⟨10.1016/j.jaci.2022.09.002⟩.
مصطلحات موضوعية: STAT3, gain of function, lymphoproliferation, cytopenia, autoimmunity, immune dysregulation, immunodeficiency, precision medicine, [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/36228738; PUBMED: 36228738
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15Electronic Resource
المؤلفون: Lougaris, V, Pession, A, Baronio, M, Soresina, A, Rondelli, R, Gazzurelli, L, Benvenuto, A, Martino, S, Gattorno, M, Biondi, A, Zecca, M, Marinoni, M, Fabio, G, Aiuti, A, Marseglia, G, Putti, M, Agostini, C, Lunardi, C, Tommasini, A, Bertolini, P, Gambineri, E, Consolini, R, Matucci, A, Azzari, C, Danieli, M, Paganelli, R, Duse, M, Cancrini, C, Moschese, V, Chessa, L, Spadaro, G, Civino, A, Vacca, A, Cardinale, F, Martire, B, Carpino, L, Trizzino, A, Russo, G, Cossu, F, Badolato, R, Pietrogrande, M, Quinti, I, Rossi, P, Ugazio, A, Pignata, C, Plebani, A, Lougaris V., Pession A., Baronio M., Soresina A., Rondelli R., Gazzurelli L., Benvenuto A., Martino S., Gattorno M., Biondi A., Zecca M., Marinoni M., Fabio G., Aiuti A., Marseglia G., Putti M. C., Agostini C., Lunardi C., Tommasini A., Bertolini P., Gambineri E., Consolini R., Matucci A., Azzari C., Danieli M. G., Paganelli R., Duse M., Cancrini C., Moschese V., Chessa L., Spadaro G., Civino A., Vacca A., Cardinale F., Martire B., Carpino L., Trizzino A., Russo G., Cossu F., Badolato R., Pietrogrande M. C., Quinti I., Rossi P., Ugazio A., Pignata C., Plebani A.
مصطلحات الفهرس: patient registry, Primary immunodeficiencies, info:eu-repo/semantics/article
URL:
http://hdl.handle.net/10281/336825
info:eu-repo/semantics/altIdentifier/pmid/32803625
info:eu-repo/semantics/altIdentifier/wos/WOS:000560560100001
volume:40
issue:7
firstpage:1026
lastpage:1037
numberofpages:12
journal:JOURNAL OF CLINICAL IMMUNOLOGY -
16Academic Journal
المؤلفون: Violi F., Sanguigni V., Carnevale R., Plebani A., Rossi P., Finocchi A., PIGNATA, CLAUDIO, De Mattia D., Martire B., Pietrogrande M. C., Martino S., Gambineri E., Soresina A. R., Pignatelli P., Martino F., Basili S., Loffredo L.
المساهمون: Violi, F., Sanguigni, V., Carnevale, R., Plebani, A., Rossi, P., Finocchi, A., Pignata, Claudio, De Mattia, D., Martire, B., Pietrogrande, M. C., Martino, S., Gambineri, E., Soresina, A. R., Pignatelli, P., Martino, F., Basili, S., Loffredo, L.
مصطلحات موضوعية: atherosclerosi, gp91phox protein, human, oxidative stress
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/19805647; info:eu-repo/semantics/altIdentifier/wos/WOS:000270926200009; volume:120; firstpage:1616; lastpage:1622; numberofpages:7; journal:CIRCULATION; http://hdl.handle.net/11588/354078; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-70350238803; https://www.ncbi.nlm.nih.gov/pubmed/?term=Hereditary+deficiency+of+gp91+is+associated+with+enhanced+arterial+dilatation
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17Academic Journal
المؤلفون: Nademi, Z, Slatter, M, Gambineri, E, Mannurita, S C, Barge, D, Hodges, S, Bunn, S, Thomas, J, Haugk, B, Hambleton, S, Flood, T, Cant, A, Abinun, M, Gennery, A
المصدر: Bone Marrow Transplantation ; volume 49, issue 2, page 310-312 ; ISSN 0268-3369 1476-5365
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18Academic Journal
المؤلفون: Barzaghi, F., Passerini, L., Gambineri, E., Ciullini Mannurita, S., Cornu, T., Kang, E.S., Choe, Y.H., Cancrini, C., Corrente, S., Ciccocioppo, R., Cecconi, M., Zuin, G., Discepolo, V., Sartirana, C., Schmidtko, J., Ikinciogullari, A., Ambrosi, A., Roncarolo, M.G., Olek, S., Bacchetta, R.
المصدر: Journal of autoimmunity, vol. 38, no. 1, pp. 49-58
مصطلحات موضوعية: Adolescent, Adult, CD3 Complex/immunology, CD3 Complex/metabolism, Child, Preschool, Cohort Studies, DNA Methylation, Female, Flow Cytometry, Forkhead Transcription Factors/genetics, Genetic Diseases, X-Linked/genetics, X-Linked/immunology, Humans, Immunologic Deficiency Syndromes/genetics, Immunologic Deficiency Syndromes/immunology, Infant, Male, Polyendocrinopathies, Autoimmune/genetics, Autoimmune/immunology, Syndrome, T-Lymphocytes, Regulatory/immunology, Regulatory/metabolism, Young Adult
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/22264504; info:eu-repo/semantics/altIdentifier/eissn/1095-9157; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_3A2537950A252; https://serval.unil.ch/notice/serval:BIB_3A2537950A25; https://serval.unil.ch/resource/serval:BIB_3A2537950A25.P001/REF.pdf
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19Academic Journal
المؤلفون: Zennaro, D, Scala, E, Pomponi, D, Caprini, E, Arcelli, D, Gambineri, E, Russo, G, Mari, A
المصدر: Clinical and Experimental Immunology ; volume 167, issue 1, page 120-128 ; ISSN 0009-9104 1365-2249
مصطلحات موضوعية: Immunology, Immunology and Allergy
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20Academic Journal
المؤلفون: Olivito B, Ciullini S, Moriondo M, Betti L, Gambineri E, Simonini G, Azzari C, De Martino M, Cimaz R
المصدر: Pediatric Rheumatology Online Journal, Vol 6, Iss Suppl 1, p P13 (2008)
مصطلحات موضوعية: Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1546-0096