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

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10047458/1/1-s2.0-S0091674917318936-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10047458Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10047458/1/1-s2.0-S0091674917318936-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10047458Test/

المؤلفون: Slack, J, Albert, MH, Balashov, D, Belohradsky, BH, Bertaina, A, Bleesing, J, Booth, C, Buechner, J, Buckley, RH, Ouachée-Chardin, M, Deripapa, E, Drabko, K, Eapen, M, Feuchtinger, T, Finocchi, A, Gaspar, HB, Ghosh, S, Gillio, A, Gonzalez-Granado, LI, Grunebaum, E, Güngör, T, Heilmann, C, Helminen, M, Higuchi, K, Imai, K, Kalwak, K, Kanazawa, N, Karasu, G, Kucuk, ZY, Laberko, A, Lange, A, Mahlaoui, N, Meisel, R, Moshous, D, Muramatsu, H, Parikh, S, Pasic, S, Schmid, I, Schuetz, C, Schulz, A, Schultz, KR, Shaw, PJ, Slatter, MA, Sykora, K-W, Tamura, S, Taskinen, M, Wawer, A, Wolska-Kus Nierz, B, Cowan, MJ, Fischer, A, Gennery, AR

المصدر: Journal of Allergy and Clinical Immunology , 141 (1) 322-328.e10. (2018)

مصطلحات موضوعية: Ataxia-telangiectasia, Cernunnos-XLF deficiency, DNA ligase IV deficiency, DNA repair disorders, Nijmegen breakage syndrome, hematopoietic stem cell transplantation

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1552326/1/Gaspar_outcome%20of%20hematopoietic%20cell.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1552326Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1552326/1/Gaspar_outcome%20of%20hematopoietic%20cell.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1552326Test/

المؤلفون: Coulter, TI, Chandra, A, Bacon, CM, Babar, J, Curtis, J, Screaton, N, Goodlad, JR, Farmer, G, Steele, CL, Leahy, TR, Doffinger, R, Baxendale, H, Bernatoniene, J, Edgar, JD, Longhurst, HJ, Ehl, S, Speckmann, C, Grimbacher, B, Sediva, A, Milota, T, Faust, SN, Williams, AP, Hayman, G, Kucuk, ZY, Hague, R, French, P, Brooker, R, Forsyth, P, Herriot, R, Cancrini, C, Palma, P, Ariganello, P, Conlon, N, Feighery, C, Gavin, PJ, Jones, A, Imai, K, Ibrahim, MA, Markelj, G, Abinun, M, Rieux-Laucat, F, Latour, S, Pellier, I, Fischer, A, Touzot, F, Casanova, JL, Durandy, A, Burns, SO, Savic, S, Kumararatne, DS, Moshous, D, Kracker, S, Vanhaesebroeck, B, Okkenhaug, K, Picard, C, Nejentsev, S, Condliffe, AM, Cant, AJ

المصدر: J Allergy Clin Immunol (2016)

مصطلحات موضوعية: Activated phosphoinositide 3-kinase δ syndrome, PIK3CD gene, bronchiectasis, hematopoietic stem cell transplantation, immunodeficiency, p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency, phosphoinositide 3-kinase inhibitor, phosphoinositide 3-kinase δ

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1508831/1/1-s2.0-S0091674916306236-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1508831Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1508831/1/1-s2.0-S0091674916306236-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1508831Test/

المؤلفون: Coulter TI, Chandra A, Bacon CM, Babar J, Curtis J, Screaton N, Goodlad JR, Farmer G, Steele CL, Leahy TR, Doffinger R, Baxendale H, Bernatoniene J, Edgar JDM, Longhurst HJ, Ehl S, Speckmann C, Grimbacher B, Sediva A, Milota T, Faust SN, Williams AP, Hayman G, Kucuk ZY, Hague R, French P, Brooker R, Forsyth P, Herriot R, Cancrini C, Palma P, Ariganello P, Conlon N, Feighery C, Gavin PJ, Jones A, Imai K, Ibrahim MAA, Markelj G, Abinun M, Rieux-Laucat F, Latour S, Pellier I, Fischer A, Touzot F, Casanova J-L, Durandy A, Burns SO, Savic S, Kumararatne DS, Moshous D, Kracker S, Vanhaesebroeck B, Okkenhaug K, Picard C, Nejentsev S, Condliffe AM, Cant AJ

المصدر: Journal of Allergy and Clinical Immunology, 1 February 2017

وصف الملف: application/pdf

الإتاحة: https://eprint.ncl.ac.uk/fulltext.aspx?url=236488/7E9EF5F1-5F00-4540-ACF3-DC5ED314952F.pdf&pub_id=236488Test

المؤلفون: Coulter, TI, Chandra, A, Bacon, CM, Babar, J, Curtis, J, Screaton, N, Goodlad, JR, Farmer, G, Steele, CL, Leahy, TR, Doffinger, R, Baxendale, H, Bernatoniene, J, Edgar, JD, Longhurst, HJ, Ehl, S, Speckmann, C, Grimbacher, B, Sediva, A, Milota, T, Faust, SN, Williams, AP, Hayman, G, Kucuk, ZY, Hague, R, French, P, Brooker, R, Forsyth, P, Herriot, R, Cancrini, C, Palma, P, Ariganello, P, Conlon, N, Feighery, C, Gavin, PJ, Jones, A, Imai, K, Ibrahim, MA, Markelj, G, Abinun, M, Rieux-Laucat, F, Latour, S, Pellier, I, Fischer, A, Touzot, F, Casanova, JL, Durandy, A, Burns, SO, Savic, S, Kumararatne, DS, Moshous, D, Kracker, S, Vanhaesebroeck, B, Okkenhaug, K, Picard, C, Nejentsev, S, Condliffe, AM, Cant, AJ

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/104289/7/1-s2.0-S0091674916306236-main.pdfTest; Coulter, TI, Chandra, A, Bacon, CM et al. (55 more authors) (2017) Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study. Journal of Allergy and Clinical Immunology, 139 (2). pp. 597-606. ISSN 0091-6749

الإتاحة: https://doi.org/10.1016/j.jaci.2016.06.021Test
https://eprints.whiterose.ac.uk/104289Test/
https://eprints.whiterose.ac.uk/104289/7/1-s2.0-S0091674916306236-main.pdfTest

المؤلفون: Schwab C, Gabrysch A, Olbrich P, Patiño V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom D, Lucena JM, Seidl M, SchmittGräff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz H-M, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, vandeVeerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Schmid JP, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, Dückers G, Niehues T, Fronkova E, Kanderová V, Platt CD, Chou J, Chatila T, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Deyà-Martinez A, Hambleton S, Kanegane H, Taskén K, Neth O, Grimbacher B

المصدر: Journal of Allergy and Clinical Immunology

وصف الملف: application/pdf

الإتاحة: https://eprint.ncl.ac.uk/fulltext.aspx?url=248179/A798569D-512A-48C2-9C1E-DE2F06AD341E.pdf&pub_id=248179Test

المؤلفون: Slack J., Albert M. H., Balashov D., Belohradsky B. H., Bertaina A., Bleesing J., Booth C., Buechner J., Buckley R. H., Ouachee-Chardin M., Deripapa E., Drabko K., Eapen M., Feuchtinger T., Finocchi A., Gaspar H. B., Ghosh S., Gillio A., Gonzalez-Granado L. I., Grunebaum E., Gungor T., Heilmann C., Helminen M., Higuchi K., Imai K., Kalwak K., Kanazawa N., Karasu G., Kucuk Z. Y., Laberko A., Lange A., Mahlaoui N., Meisel R., Moshous D., Muramatsu H., Parikh S., Pasic S., Schmid I., Schuetz C., Schulz A., Schultz K. R., Shaw P. J., Slatter M. A., Sykora K. -W., Tamura S., Taskinen M., Wawer A., Wolska-Kusnierz B., Cowan M. J., Fischer A., Gennery A. R.

المساهمون: Slack, J, Albert, Mh, Balashov, D, Belohradsky, Bh, Bertaina, A, Bleesing, J, Booth, C, Buechner, J, Buckley, Rh, Ouachee-Chardin, M, Deripapa, E, Drabko, K, Eapen, M, Feuchtinger, T, Finocchi, A, Gaspar, Hb, Ghosh, S, Gillio, A, Gonzalez-Granado, Li, Grunebaum, E, Gungor, T, Heilmann, C, Helminen, M, Higuchi, K, Imai, K, Kalwak, K, Kanazawa, N, Karasu, G, Kucuk, Zy, Laberko, A, Lange, A, Mahlaoui, N, Meisel, R, Moshous, D, Muramatsu, H, Parikh, S, Pasic, S, Schmid, I, Schuetz, C, Schulz, A, Schultz, Kr, Shaw, Pj, Slatter, Ma, Sykora, K-, Tamura, S, Taskinen, M, Wawer, A, Wolska-Kusnierz, B, Cowan, Mj, Fischer, A, Gennery, Ar

مصطلحات موضوعية: Ataxia-telangiectasia, Cernunnos-XLF deficiency, DNA ligase IV deficiency, DNA repair disorder, Nijmegen breakage syndrome, hematopoietic stem cell transplantation, Adolescent, Allele, Child, Preschool, DNA Repair-Deficiency Disorder, Female, Follow-Up Studie, Graft vs Host Disease, Human, Infant, Kaplan-Meier Estimate, Male, Mutation, Prognosi, Treatment Outcome, Virus Disease, Young Adult, DNA Breaks, Double-Stranded, DNA Repair, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28392333; info:eu-repo/semantics/altIdentifier/wos/WOS:000419312200037; volume:141; issue:1; firstpage:322; lastpage:328.e10; journal:THE JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY; http://hdl.handle.net/2108/233839Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018987484

الإتاحة: https://doi.org/10.1016/j.jaci.2017.02.036Test
http://hdl.handle.net/2108/233839Test