المؤلفون: Materna, M, Delmonte, OM, Bosticardo, M, Momenilandi, M, Conrey, PE, Charmeteau-De Muylder, B, Bravetti, C, Bellworthy, R, Cederholm, A, Staels, F, Ganoza, CA, Darko, S, Sayed, S, Le Floc'h, C, Ogishi, M, Rinchai, D, Guenoun, A, Bolze, A, Khan, T, Gervais, A, Krüger, R, Völler, M, Palterer, B, Sadeghi-Shabestari, M, Langlois de Septenville, A, Schramm, CA, Shah, S, Tello-Cajiao, JJ, Pala, F, Amini, K, Campos, JS, Lima, NS, Eriksson, D, Lévy, R, Seeleuthner, Y, Jyonouchi, S, Ata, M, Al Ali, F, Stittrich, A, Deswarte, C, Pereira, A, Mégret, J, Le Voyer, T, Bastard, P, Berteloot, L, Dussiot, M, Vladikine, N, Cardenas, PP, Jouanguy, E, Alqahtani, M, Hasan, A, Thanaraj, TA, Rosain, J, Al Qureshah, F, Sabato, V, Alyanakian, MA, Leruez-Ville, M, Rozenberg, F, Haddad, E, Regueiro, JR, Toribio, ML, Kelsen, JR, Salehi, M, Nasiri, S, Torabizadeh, M, Rokni-Zadeh, H, Changi-Ashtiani, M, Vatandoost, N, Moravej, H, Akrami, SM, Mazloomrezaei, M, Cobat, A, Meyts, I, Toyofuku, E, Nishimura, M, Moriya, K, Mizukami, T, Imai, K, Abel, L, Malissen, B, Al-Mulla, F, Alkuraya, FS, Parvaneh, N, von Bernuth, H, Beetz, C, Davi, F, Douek, DC, Cheynier, R, Langlais, D, Landegren, N, Marr, N, Morio, T, Shahrooei, M, Schrijvers, R, Henrickson, SE, Luche, H, Notarangelo, LD, Casanova, JL, Béziat, V

المصدر: Science (New York, N.Y.). 383(6686)

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:238422122Test

المؤلفون: Abolhassani, H, Landegren, N, Bastard, P, Materna, M, Modaresi, M, Du, LK, Aranda-Guillen, M, Sardh, F, Zuo, FL, Zhang, P, Marcotte, H, Marr, N, Khan, T, Ata, M, Al-Ali, F, Pescarmona, R, Belot, A, Beziat, V, Zhang, Q, Casanova, JL, Kampe, O, Zhang, SY, Hammarstrom, L, Pan-Hammarstrom, Q

المصدر: Journal of clinical immunology. 42(3):471-483

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:148704383Test

المؤلفون: Momenilandi, M, Lévy, R, Sobrino, S, Li, J, Lagresle-Peyrou, C, Esmaeilzadeh, H, Fayand, A, Le Floc'h, C, Guérin, A, Mina, ED, Shearer, D, Delmonte, OM, Yatim, A, Mulder, K, Mancini, M, Rinchai, D, Denis, A, Neehus, AL, Balogh, K, Brendle, S, Rokni-Zadeh, H, Changi-Ashtiani, M, Seeleuthner, Y, Deswarte, C, Bessot, B, Cremades, C, Materna, M, Cederholm, A, Ogishi, M, Philippot, Q, Beganovic, O, Ackermann, M, Wuyts, M, Khan, T, Fouéré, S, Herms, F, Chanal, J, Palterer, B, Bruneau, J, Molina, TJ, Leclerc-Mercier, S, Prétet, JL, Youssefian, L, Vahidnezhad, H, Parvaneh, N, Claeys, KG, Schrijvers, R, Luka, M, Pérot, P, Fourgeaud, J, Nourrisson, C, Poirier, P, Jouanguy, E, Boisson-Dupuis, S, Bustamante, J, Notarangelo, LD, Christensen, N, Landegren, N, Abel, L, Marr, N, Six, E, Langlais, D, Waterboer, T, Ginhoux, F, Ma, CS, Tangye, SG, Meyts, I, Lachmann, N, Hu, J, Shahrooei, M, Bossuyt, X, Casanova, JL, Béziat, V

المصدر: Cell. 187(11):2817

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:238701783Test

المؤلفون: Lee, D, Le Pen, J, Yatim, A, Dong, BH, Aquino, Y, Ogishi, M, Pescarmona, R, Talouarn, E, Rinchai, D, Zhang, P, Perret, M, Liu, ZY, Jordan, I, Bozdemir, SE, Bayhan, GI, Beaufils, C, Bizien, L, Bisiaux, A, Lei, WT, Hasan, M, Chen, J, Gaughan, C, Asthana, A, Libri, V, Luna, JM, Jaffre, F, Hoffmann, HH, Michailidis, E, Moreews, M, Seeleuthner, Y, Bilguvar, K, Mane, S, Flores, C, Zhang, Y, Arias, AA, Bailey, R, Schluter, A, Milisavljevic, B, Bigio, B, Le Voyer, T, Materna, M, Gervais, A, Moncada-Velez, M, Pala, F, Lazarov, T, Levy, R, Neehus, AL, Rosain, J, Peel, J, Chan, YH, Morin, MP, Pino-Ramirez, RM, Belkaya, S, Lorenzo, L, Anton, J, Delafontaine, S, Toubiana, J, Bajolle, F, Fumado, V, DeDiego, ML, Fidouh, N, Rozenberg, F, Perez-Tur, J, Chen, SB, Evans, T, Geissmann, F, Lebon, P, Weiss, SR, Bonnet, D, Duval, X, Pan-Hammarstrom, Q, Planas, AM, Meyts, I, Haerynck, F, Pujol, A, Sancho-Shimizu, V, Dalgard, CL, Bustamante, J, Puel, A, Boisson-Dupuis, S, Boisson, B, Maniatis, T, Zhang, Q, Bastard, P, Notarangelo, L, Beziat, V, de Diego, RP, Rodriguez-Gallego, C, Su, HC, Lifton, RP, Jouanguy, E, Cobat, A, Alsina, L, Keles, S, Haddad, E, Abel, L, Belot, A, Quintana-Murci, L, Rice, CM, Silverman, RH, Zhang, SY, Casanova, JL

المصدر: Science (New York, N.Y.). 379(6632):554

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:153600200Test

المؤلفون: Asano, T, Boisson, B, Onodi, F, Matuozzo, D, Moncada-Velez, M, Renkilaraj, MRLM, Zhang, P, Meertens, L, Bolze, A, Materna, M, Korniotis, S, Gervais, A, Talouarn, E, Bigio, B, Seeleuthner, Y, Bilguvar, K, Zhang, Y, Neehus, AL, Ogishi, M, Pelham, SJ, Le Voyer, T, Rosain, J, Philippot, Q, Soler-Palacin, P, Colobran, R, Martin-Nalda, A, Riviere, JG, Tandjaoui-Lambiotte, Y, Chaibi, K, Shahrooei, M, Darazam, IA, Olyaei, NA, Mansouri, D, Palabiyik, F, Ozcelik, T, Novelli, G, Novelli, A, Casari, G, Aiuti, A, Carrera, P, Bondesan, S, Barzaghi, F, Rovere-Querini, P, Tresoldi, C, Franco, JL, Rojas, J, Reyes, LF, Bustos, IG, Arias, AA, Morelle, G, Kyheng, C, Troya, J, Planas-Serra, L, Schluter, A, Gut, M, Pujol, A, Allende, LM, Rodriguez-Gallego, C, Flores, C, Cabrera-Marante, O, Pleguezuelo, DE, de Diego, RP, Keles, S, Aytekin, G, Akcan, OM, Bryceson, YT, Bergman, P, Brodin, P, Smole, D, Smith, CIE, Norlin, AC, Campbell, TM, Covill, LE, Hammarstrom, L, Pan-Hammarstrom, Q, Abolhassani, H, Mane, S, Marr, N, Ata, M, Al Ali, F, Khan, T, Spaan, AN, Dalgard, CL, Bonfanti, P, Biondi, A, Tubiana, S, Burdet, C, Nussbaum, R, Kahn-Kirby, A, Snow, AL, Bustamante, J, Puel, A, Boisson-Dupuis, S, Zhang, SY, Beziat, V, Lifton, RP, Bastard, P, Notarangelo, LD, Abel, L, Su, HC, Jouanguy, E, Amara, A, Soumelis, V, Cobat, A, Zhang, Q, Casanova, JL

المصدر: Science immunology. 6(62)

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:147606350Test

المؤلفون: Arlabosse, T., Materna, M., Riccio, O., Schnider, C., Angelini, F., Perreau, M., Rochat, I., Superti-Furga, A., Campos-Xavier, B., Héritier, S., Pereira, A., Deswarte, C., Lévy, R., Distefano, M., Bustamante, J., Roelens, M., Borie, R., Le Brun, M., Crestani, B., Casanova, J.L., Puel, A., Hofer, M., Fieschi, C., Theodoropoulou, K., Béziat, V., Candotti, F.

المصدر: Journal of clinical immunology, vol. 43, no. 7, pp. 1674

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37341861; info:eu-repo/semantics/altIdentifier/eissn/1573-2592; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_D920DAB3A1253; https://serval.unil.ch/notice/serval:BIB_D920DAB3A125Test; urn:issn:0271-9142; https://serval.unil.ch/resource/serval:BIB_D920DAB3A125.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D920DAB3A1253Test

الإتاحة: https://doi.org/10.1007/s10875-023-01539-yTest
https://serval.unil.ch/notice/serval:BIB_D920DAB3A125Test
https://serval.unil.ch/resource/serval:BIB_D920DAB3A125.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D920DAB3A1253Test

المؤلفون: Lévy R., Gothe F., Momenilandi M., Magg T., Materna M., Peters P., Raedler J., Kıykım, Ayca, Béziat, Vivien

العلاقة: Journal of Experimental Medicine; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1084/jem.20220275Test; https://hdl.handle.net/20.500.12831/19678Test; 220; 2-s2.0-85152482775

الإتاحة: https://doi.org/10.1084/jem.20220275Test
https://doi.org/20.500.12831/19678Test
https://hdl.handle.net/20.500.12831/19678Test

المؤلفون: Darazam, I.A., Hakamifard, A., Momenilandi, M., Materna, M., Gharehbagh, F.J., Shahrooei, M., Olyaei, N.A., Zerehpoosh, F.B., Fayand, A., Hatami, F., Lotfollahi, L., Mansouri, N., Casanova, J.L., Béziat, V., Mansouri, D.

المصدر: Journal of clinical immunology, vol. 43, no. 1, pp. 217-228

مصطلحات موضوعية: Humans, ATP-Binding Cassette Transporters/genetics, ATP-Binding Cassette Transporters/chemistry, ATP-Binding Cassette Transporters/metabolism, Delayed Diagnosis, Iran, Histocompatibility Antigens Class I/genetics, Histocompatibility Antigens Class I/metabolism, Antigen Presentation, ATP Binding Cassette Transporter, Subfamily B, Member 3/genetics, Bare lymphocyte syndrome type 1 (BLS-1), Necrotizing granulomata, TAP2 deficiency, Transporter associated with antigen processing (TAP)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36227411; info:eu-repo/semantics/altIdentifier/eissn/1573-2592; https://serval.unil.ch/notice/serval:BIB_2BAA256188ABTest; urn:issn:0271-9142

الإتاحة: https://doi.org/10.1007/s10875-022-01374-7Test
https://serval.unil.ch/notice/serval:BIB_2BAA256188ABTest

المؤلفون: Arlabosse, T., Materna, M., Riccio, O., Schnider, C., Angelini, F., Perreau, M., Rochat, I., Superti-Furga, A., Campos-Xavier, B., Héritier, S., Pereira, A., Deswarte, C., Lévy, R., Distefano, M., Bustamante, J., Roelens, M., Borie, R., Le Brun, M., Crestani, B., Casanova, J.L., Puel, A., Hofer, M., Fieschi, C., Theodoropoulou, K., Béziat, V., Candotti, F.

المصدر: Journal of clinical immunology, vol. 43, no. 7, pp. 1566-1580

مصطلحات موضوعية: Humans, Job Syndrome/diagnosis, Job Syndrome/genetics, Cytokine Receptor gp130/genetics, Cytokine Receptor gp130/metabolism, Phenotype, STAT3 Transcription Factor, Hypersensitivity, Immediate/complications, Mutation/genetics, GP130, Hyper-IgE, IL6ST, Inborn errors of immunity, Job's syndrome, STAT3

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37273120; info:eu-repo/semantics/altIdentifier/eissn/1573-2592; https://serval.unil.ch/notice/serval:BIB_BB16C2AE927CTest; urn:issn:0271-9142

الإتاحة: https://doi.org/10.1007/s10875-023-01517-4Test
https://serval.unil.ch/notice/serval:BIB_BB16C2AE927CTest

المؤلفون: Zhang Q., Bastard P., Karbuz A., Gervais A., Tayoun A. A., Aiuti A., Belot A., Bolze A., Gaudet A., Bondarenko A., Spaan A. N., Guennoun A., Arias A. A., Planas A. M., Sediva A., Shcherbina A., Neehus A. -L., Puel A., Froidure A., Novelli A., Parlakay A. O., Pujol A., Yahsi A., Gulhan B., Bigio B., Boisson B., Drolet B. A., Franco C. A. A., Flores C., Rodriguez-Gallego C., Prando C., Biggs C. M., Luyt C. -E., Dalgard C. L., O'Farrelly C., Matuozzo D., Dalmau D., Perlin D. S., Mansouri D., van de Beek D., Vinh D. C., Dominguez-Garrido E., Hsieh E. W. Y., Erdeniz E. H., Jouanguy E., Sevketoglu E., Talouarn E., Quiros-Roldan E., Andreakos E., Husebye E., Alsohime F., Haerynck F., Casari G., Novelli G., Aytekin G., Morelle G., Alkan G., Bayhan G. I., Feldman H. B., Su H. C., von Bernuth H., Resnick I., Bustos I., Meyts I., Migeotte I., Tancevski I., Bustamantem J., Fellay J., El Baghdadi J., Martinez-Picado J., Casanova J. -L., Rosain J., Manry J., Chen J., Christodoulou J., Bohlen J., Franco J. L., Li J., Anaya J. M., Rojas J., Ye J., Uddin K. M. F., Yasar K. K., Kisand K., Okamoto K., Chaibi K., Mironska K., Marodi L., Abel L., Renia L., Lorenzo L., Hammarstrom L., Ng L. F. P., Quintana-Murci L., Erazo L. V., Notarangelo L. D., Reyes L. F., Allende L. M., Imberti L., Renkilaraj M. R. L. M., Moncada-Velez M., Materna M., Anderson M. S., Gut M., Chbihi M., Ogishi M., Emiroglu M., Seppanen M. R. J., Uddin M. J., Shahrooei M., Alexander N., Hatipoglu N., Marr N., Akcay N., Boyarchuk O., Slaby O., Akcan O. M., Zhang P., Soler-Palacin P., Gregersen P. K., Brodin P., Garcon P., Morange P. -E., Pan-Hammarstrom Q., Zhou Q., Philippot Q., Halwani R., de Diego R. P., Levy R., Yang R., Oz S. K. T., Muhsen S. A., Kanik-Yuksek S., Espinosa-Padilla S., Ramaswamy S., Okada S., Bozdemir S. E., Aytekin S. E., Karabela S. N., Keles S., Senoglu S., Zhang S. -Y., Duvlis S., Constantinescu S. N., Boisson-Dupuis S., Turvey S. E., Tangye S. G., Asano T., Ozcelik T., Le Voyer T., Maniatis T., Morio T., Mogensen T. H., Sancho-Shimizu V., Beziat V., Solanich X., Bryceson Y., Lau Y. -L., Itan Y., Cobat A.

المساهمون: Zhang, Q., Bastard, P., Karbuz, A., Gervais, A., Tayoun, A. A., Aiuti, A., Belot, A., Bolze, A., Gaudet, A., Bondarenko, A., Spaan, A. N., Guennoun, A., Arias, A. A., Planas, A. M., Sediva, A., Shcherbina, A., Neehus, A. -L., Puel, A., Froidure, A., Novelli, A., Parlakay, A. O., Pujol, A., Yahsi, A., Gulhan, B., Bigio, B., Boisson, B., Drolet, B. A., Franco, C. A. A., Flores, C., Rodriguez-Gallego, C., Prando, C., Biggs, C. M., Luyt, C. -E., Dalgard, C. L., O'Farrelly, C., Matuozzo, D., Dalmau, D., Perlin, D. S., Mansouri, D., van de Beek, D., Vinh, D. C., Dominguez-Garrido, E., Hsieh, E. W. Y., Erdeniz, E. H., Jouanguy, E., Sevketoglu, E., Talouarn, E., Quiros-Roldan, E., Andreakos, E., Husebye, E., Alsohime, F., Haerynck, F., Casari, G., Novelli, G., Aytekin, G., Morelle, G., Alkan, G., Bayhan, G. I., Feldman, H. B., Su, H. C., von Bernuth, H., Resnick, I., Bustos, I., Meyts, I., Migeotte, I., Tancevski, I., Bustamantem, J., Fellay, J., El Baghdadi, J., Martinez-Picado, J., Casanova, J. -L., Rosain, J., Manry, J., Chen, J., Christodoulou, J., Bohlen, J., Franco, J. L., Li, J., Anaya, J. M., Rojas, J., Ye, J., Uddin, K. M. F., Yasar, K. K., Kisand, K., Okamoto, K., Chaibi, K., Mironska, K., Marodi, L., Abel, L., Renia, L., Lorenzo, L., Hammarstrom, L., Ng, L. F. P., Quintana-Murci, L., Erazo, L. V., Notarangelo, L. D., Reyes, L. F., Allende, L. M., Imberti, L., Renkilaraj, M. R. L. M.

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000769826700001; journal:NATURE; http://hdl.handle.net/20.500.11768/125855Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85124267100

الإتاحة: https://doi.org/20.500.11768/125855Test
https://doi.org/10.1038/s41586-022-04447-0Test
https://hdl.handle.net/20.500.11768/125855Test