المؤلفون: Le Voyer, T, Parent, AV, Liu, X, Cederholm, A, Gervais, A, Rosain, J, Nguyen, T, Lorenzo, MP, Rackaityte, E, Rinchai, D, Zhang, P, Bizien, L, Hancioglu, G, Ghillani-Dalbin, P, Charuel, JL, Philippot, Q, Gueye, MS, Renkilaraj, MRLM, Ogishi, M, Soudee, C, Migaud, M, Rozenberg, F, Momenilandi, M, Riller, Q, Imberti, L, Delmonte, OM, Muller, G, Keller, B, Orrego, J, Gallego, WAF, Rubin, T, Emiroglu, M, Parvaneh, N, Eriksson, D, Aranda-Guillen, M, Berrios, DI, Vong, L, Katelaris, CH, Mustillo, P, Raedler, J, Bohlen, J, Celik, JB, Astudillo, C, Winter, S, McLean, C, Guffroy, A, DeRisi, JL, Yu, D, Miller, C, Feng, Y, Guichard, A, Beziat, V, Bustamante, J, Pan-Hammarstrom, Q, Zhang, Y, Rosen, LB, Holland, SM, Bosticardo, M, Kenney, H, Castagnoli, R, Slade, CA, Boztug, K, Mahlaoui, N, Latour, S, Abraham, RS, Lougaris, V, Hauck, F, Sediva, A, Atschekzei, F, Sogkas, G, Poli, MC, Slatter, MA, Palterer, B, Keller, MD, Pinzon-Charry, A, Sullivan, A, Droney, L, Suan, D, Wong, M, Kane, A, Hu, H, Ma, C, Grombirikova, H, Ciznar, P, Dalal, I, Aladjidi, N, Hie, M, Lazaro, E, Franco, J, Keles, S, Malphettes, M, Pasquet, M, Maccari, ME, Meinhardt, A, Ikinciogullari, A, Shahrooei, M, Celmeli, F, Frosk, P, Goodnow, CC, Gray, PE, Belot, A, Kuehn, HS, Rosenzweig, SD, Miyara, M, Licciardi, F, Servettaz, A, Barlogis, V, Le Guenno, G, Herrmann, VM, Kuijpers, T, Ducoux, G, Sarrot-Reynauld, F, Schuetz, C, Cunningham-Rundles, C, Rieux-Laucat, F, Tangye, SG, Sobacchi, C, Doffinger, R, Warnatz, K, Grimbacher, B, Fieschi, C, Berteloot, L, Bryant, VL, Assant, ST, Su, H, Neven, B, Abel, L, Zhang, Q, Boisson, B, Cobat, A, Jouanguy, E, Kampe, O, Bastard, P, Roifman, CM, Landegren, N, Notarangelo, LD, Anderson, MS, Casanova, JL, Puel, A

المصدر: Nature. 623(7988):803-813

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:155216327

المؤلفون: Lorenzini, T, Fliegauf, M, Klammer, N, Frede, N, Proietti, M, Bulashevska, A, Camacho-Ordonez, N, Varjosalo, M, Kinnunen, M, de Vries, E, van der Meer, JWM, Ameratunga, R, Roifman, CM, Schejter, YD, Kobbe, R, Hautala, T, Atschekzei, F, Schmidt, RE, Schroder, C, Stepensky, P, Shadur, B, Pedroza, LA, van der Flier, M, Martinez-Gallo, M, Gonzalez-Granado, LI, Allende, LM, Shcherbina, A, Kuzmenko, N, Zakharova, V, Neves, JF, Svec, P, Fischer, U, Ip, W, Bartsch, O, Baris, S, Klein, C, Geha, R, Chou, J, Alosaimi, M, Weintraub, L, Boztug, K, Hirschmugl, T, Vilela, MMD, Holzinger, D, Seidl, M, Lougaris, V, Plebani, A, Alsina, L, Piquer-Gibert, M, Deya-Martinez, A, Slade, CA, Aghamohammadi, A, Abolhassani, H, Hammarstrom, L, Kuismin, O, Helminen, M, Allen, HL, Thaventhiran, JE, Freeman, AF, Cook, M, Bakhtiar, S, Christiansen, M, Cunningham-Rundles, C, Patel, NC, Rae, W, Niehues, T, Brauer, N, Syrjanen, J, Seppanen, MRJ, Burns, SO, Tuijnenburg, P, Kuijpers, TW, Warnatz, K, Grimbacher, B

المصدر: The Journal of allergy and clinical immunology. 146(4):901-911

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145027375

المؤلفون: Yehonatan Pasternak, MD, Linda Vong, PhD, Daniele Merico, PhD, Laura Abrego Fuentes, MD, Ori Scott, MD, Marina Sham, MD, Meghan Fraser, RN, Abby Watts-Dickens, CGC, Jessica Willett Pachul, RN, MN, Vy H.D. Kim, MD, MScCH, FRCPC, Christian R. Marshall, PhD, Stephen Scherer, PhD, Chaim M. Roifman, CM, MD, FRCPC, FCACB

المصدر: Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 3, Pp 100267- (2024)

مصطلحات موضوعية: Severe combined immunodeficiency, thymus, FOXN1, T-cell receptor excision circles, newborn screening, whole exome sequencing, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2772829324000638; https://doaj.org/toc/2772-8293

URL الوصول: https://doaj.org/article/a56639754b74444aade0d15c9a346406

المؤلفون: Bousfiha, AA, Jeddane, L, Ailal, F, Al Herz, W, Conley, ME, Cunningham-Rundles, C, Etzioni, A, Fischer, A, Franco, JL, Geha, RS, Hammarstrom, L, Nonoyama, S, Ochs, HD, Roifman, CM, Seger, R, Tang, MLK, Puck, JM, Chapel, H, Notarangelo, LD, Casanova, JL

المصدر: Journal of clinical immunology. 33(6):1078-1087

مصطلحات موضوعية: Medicin och hälsovetenskap, Hälsovetenskap, Hälso- och sjukvårdsorganisation, hälsopolitik och hälsoekonomi, Medicinska och farmaceutiska grundvetenskaper, Immunologi inom det medicinska området

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:127246796

المؤلفون: Borte, M, Bernatowska, E, Ochs, HD, Roifman, CM

المصدر: Clinical and experimental immunology. 164(3):357-364

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:122468370

المؤلفون: Ferrua F, Bortolomai I, Fontana E, Di Silvestre D, Rigoni R, Marcovecchio GE, Draghici E, Brambilla F, Castiello MC, Delfanti G, Moshous D, Picard C, Taghon T, Bordon V, Schulz AS, Schuetz C, Giliani S, Soresina A, Gennery AR, Signa S, Davila Saldana BJ, Delmonte OM, Notarangelo LD, Roifman CM, Poliani PL, Uva P, Mauri PL, Villa A, Bosticardo M

المصدر: Frontiers in Immunology, 2021

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/276205; https://eprints.ncl.ac.uk/fulltext.aspx?url=276205/7D4F55C8-D031-4764-8D48-BCFACD4057A2.pdf&pub_id=276205

الاتاحة: https://eprints.ncl.ac.uk/276205

المؤلفون: Olthof, AM, White, AK, Mieruszynski, S, Doggett, K, Lee, MF, Chakroun, A, Aleem, AKA, Rousseau, J, Magnani, C, Roifman, CM, Campeau, PM, Heath, JK, Kanadia, RN

Relation: pii: 6154467; Olthof, A. M., White, A. K., Mieruszynski, S., Doggett, K., Lee, M. F., Chakroun, A., Aleem, A. K. A., Rousseau, J., Magnani, C., Roifman, C. M., Campeau, P. M., Heath, J. K. & Kanadia, R. N. (2021). Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns. NUCLEIC ACIDS RESEARCH, 49 (6), pp.3524-3545. https://doi.org/10.1093/nar/gkab118.; http://hdl.handle.net/11343/304593

الاتاحة: http://hdl.handle.net/11343/304593

المؤلفون: Crowley, E, Warner, N, Pan, J, Khalouei, S, Elkadri, A, Fiedler, K, Foong, J, Turinsky, AL, Bronte-Tinkew, D, Zhang, S, Hu, J, Tian, D, Li, D, Horowitz, J, Siddiqui, I, Upton, J, Roifman, CM, Church, PC, Wall, DA, Ramani, AK, Kotlarz, D, Klein, C, Uhlig, H, Snapper, SB, Gonzaga-Jauregui, C, Paterson, AD, McGovern, PB, Brudno, M, Walters, TD, Griffiths, AM, Muise, AM

Relation: https://ora.ox.ac.uk/objects/uuid:f9c616cb-35eb-4c5c-9a25-8ae8837671fc; https://doi.org/10.1053/j.gastro.2020.02.023

الاتاحة: https://doi.org/10.1053/j.gastro.2020.02.023
https://ora.ox.ac.uk/objects/uuid:f9c616cb-35eb-4c5c-9a25-8ae8837671fc

المؤلفون: Al-Herz, W, Bousfiha, A, Casanova, JL, Chapel, H, Conley, ME, Cunningham-Rundles, C, Etzioni, A, Fischer, A, Franco, JL, Geha, RS, Hammarstrom, L, Nonoyama, S, Notarangelo, LD, Ochs, HD, Puck, JM, Roifman, CM, Seger, R, Tang, MLK

المصدر: Frontiers in immunology. 2:54

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:132126678

المؤلفون: Nicolay, U, Kiessling, P, Berger, M, Gupta, S, Yel, L, Roifman, CM, Gardulf, A, Eichmann, F, Haag, S, Massion, C, Ochs, HD

المصدر: Journal of clinical immunology. 26(1):65-72

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1957500

المؤلفون: Munoz-Ruiz, M, Perez-Flores, V, Garcillan, B, Guardo, AC, Mazariegos, MS, Takada, H, Allende, LM, Kilic, SS, Sanal, O, Roifman, CM, Lopez-Granados, E, Recio, MJ, Martinez-Naves, E, Fernandez-Malave, E, Regueiro, JR

Relation: pii: 1471-2172-14-3; Munoz-Ruiz, M., Perez-Flores, V., Garcillan, B., Guardo, A. C., Mazariegos, M. S., Takada, H., Allende, L. M., Kilic, S. S., Sanal, O., Roifman, C. M., Lopez-Granados, E., Recio, M. J., Martinez-Naves, E., Fernandez-Malave, E. & Regueiro, J. R. (2013). Human CD3 gamma, but not CD3 delta, haploinsufficiency differentially impairs gamma delta versus alpha beta surface TCR expression. BMC IMMUNOLOGY, 14 (1), https://doi.org/10.1186/1471-2172-14-3.; http://hdl.handle.net/11343/260782

الاتاحة: http://hdl.handle.net/11343/260782

المؤلفون: Dalal, I, Reid, B, Doyle, J, Freedman, M, Calderwood, S, Saunders, F, Roifman, CM

المصدر: Bone Marrow Transplantation ; volume 25, issue 6, page 613-621 ; ISSN 0268-3369 1476-5365

الاتاحة: http://dx.doi.org/10.1038/sj.bmt.1702215
https://www.nature.com/articles/1702215
https://www.nature.com/articles/1702215.pdf

المؤلفون: Leiding, JW, Okada, S, Hagin, D, Abinun, M, Shcherbina, A, Balashov, DN, Kim, VHD, Ovadia, A, Guthery, SL, Pulsipher, M, Lilic, D, Devlin, LA, Christie, S, Depner, M, Fuchs, S, van Royen-Kerkhof, A, Lindemans, C, Petrovic, A, Sullivan, KE, Bunin, N, Kilic, SS, Arpaci, F, de la Calle-Martin, O, Martinez-Martinez, L, Aldave, JC, Kobayashi, M, Ohkawa, T, Imai, K, Iguchi, A, Roifman, CM, Gennery, AR, Slatter, M, Ochs, HD, Morio, T, Torgerson, TR, Inborn Errors Working Party, European Soc Blood Marrow, Primary Immune Deficiency

المصدر: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: surgical procedures, operative, hemophagocytic lymphohistiocytosis, gain of function, graft-versus-host disease, chronic mucocutaneous candidiasis, Hematopoietic stem cell transplantation, graft rejection, Janus kinase, signal transducer and activator of transcription

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::1af22e603ade6f55ed89266cc666c46e
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3954

المؤلفون: Leiding JW, Okada S, Hagin D, Abinun M, Shcherbina A, Balashov DN, Kim VHD, Ovadia A, Guthery SL, Pulsipher M, Lilic D, Devlin LA, Christie S, Depner M, Fuchs S, van Royen-Kerkhof A, Lindemans C, Petrovic A, Sullivan KE, Bunin N, Kilic SS, Arpaci F, Calle-Martin ODL, Martinez-Martinez L, Aldave JC, Kobayashi M, Ohkawa T, Imai K, Iguchi A, Roifman CM, Gennery AR, Slatter M, Ochs HD, Morio T, Torgerson TR

المصدر: Journal of Allergy and Clinical Immunology, 2017

Relation: https://eprints.ncl.ac.uk/240350

الاتاحة: https://eprints.ncl.ac.uk/240350

المؤلفون: Newman, EN, Feusier, J, Jacob, SP, Jorde, LB, Hill, HR, Hanson, C, Izawa, K, Leahy, TR, Yamada, M, Rae, W, Hauck, F, Abolhassani, H, Aghamohammadi, A, Hammarstrom, L, Kanegane, H, Slade, C, Roifman, CM, Grimbacher, B, Zimmerman, GA, Bohnsack, JF, Chen, K

المصدر: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 141(2)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:137986126

المؤلفون: POLIANI, Pietro Luigi, FONTANA, Elena, ROIFMAN CM, NOTARANGELO LD

المساهمون: Poliani Pietro Luigi, Fontana Elena, Roifman Cm, Notarangelo Ld

مصطلحات موضوعية: ZAP70 deficiency in human, Thymic biopse, immunodeficiencies

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000314661500046; volume:131; issue:2; firstpage:597; lastpage:600; numberofpages:4; journal:JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY; http://hdl.handle.net/11379/165382

الاتاحة: http://hdl.handle.net/11379/165382

المؤلفون: HASSAN A, BOOTH C, BRIGHTWELL A, ALLWOOD Z, VEYS P, RAO K, HöNIG M, FRIEDRICH W, GENNERY A, SLATTER M, BREDIUS R, FINOCCHI A, CANCRINI C, PORTA F, LANFRANCHI A, RIDELLA M, STEWARD C, FILIPOVICH A, MARSH R, BORDON V, AL MUHSEN S, AL MOUSA H, ALSUM Z, AL DHEKRI H, AL GHONAIUM A, SPECKMANN C, FISCHER A, MAHLAOUI N, NICHOLS KE, GRUNEBAUM E, AL ZAHRANI D, ROIFMAN CM, BOELENS J, DAVIES EG, CAVAZZANA CALVO M, NOTARANGELO L, GASPAR HB, AIUTI , ALESSANDRO

المساهمون: Hassan, A, Booth, C, Brightwell, A, Allwood, Z, Veys, P, Rao, K, Hönig, M, Friedrich, W, Gennery, A, Slatter, M, Bredius, R, Finocchi, A, Cancrini, C, Aiuti, Alessandro, Porta, F, Lanfranchi, A, Ridella, M, Steward, C, Filipovich, A, Marsh, R, Bordon, V, AL MUHSEN, S, AL MOUSA, H, Alsum, Z, AL DHEKRI, H, AL GHONAIUM, A, Speckmann, C, Fischer, A, Mahlaoui, N, Nichols, Ke, Grunebaum, E, AL ZAHRANI, D, Roifman, Cm, Boelens, J, Davies, Eg, CAVAZZANA CALVO, M, Notarangelo, L, Gaspar, Hb

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000311623800029; volume:120; firstpage:3615; lastpage:3624; numberofpages:10; journal:BLOOD; http://hdl.handle.net/20.500.11768/16156

الاتاحة: https://hdl.handle.net/20.500.11768/16156
https://doi.org/10.1182/blood-2011-12-396879

المؤلفون: Grunebaum E, Chung CT, Dadi H, Kim P, Brigida I, Ferrua F, Cicalese MP, AIUTI , ALESSANDRO, Roifman CM

المساهمون: Grunebaum, E, Chung, Ct, Dadi, H, Kim, P, Brigida, I, Ferrua, F, Cicalese, Mp, Aiuti, Alessandro, Roifman, Cm

Relation: info:eu-repo/semantics/altIdentifier/pmid/21531016; info:eu-repo/semantics/altIdentifier/wos/WOS:000291048500015; volume:127; issue:6; firstpage:1417; lastpage:1419; numberofpages:3; journal:JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY; http://hdl.handle.net/20.500.11768/5046

الاتاحة: https://hdl.handle.net/20.500.11768/5046
https://doi.org/10.1016/j.jaci.2011.04.014

المؤلفون: Sauer AV, Mrak E, Hernandez RJ, Zacchi E, Cavani F, Casiraghi M, Grunebaum E, Roifman CM, Cervi MC, AMBROSI , ALESSANDRO, Carlucci F, RONCAROLO , MARIA GRAZIA, Villa A, Rubinacci A, AIUTI , ALESSANDRO

المساهمون: Sauer, Av, Mrak, E, Hernandez, Rj, Zacchi, E, Cavani, F, Casiraghi, M, Grunebaum, E, Roifman, Cm, Cervi, Mc, Ambrosi, Alessandro, Carlucci, F, Roncarolo, MARIA GRAZIA, Villa, A, Rubinacci, A, Aiuti, Alessandro

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000270595700014; volume:114; issue:15; firstpage:3216; lastpage:3226; numberofpages:11; journal:BLOOD; http://hdl.handle.net/20.500.11768/8968; http://www.bloodjournal.org/content/114/15/3216.long

الاتاحة: https://hdl.handle.net/20.500.11768/8968
https://doi.org/10.1182/blood-2009-03-209221
http://www.bloodjournal.org/content/114/15/3216.long

المؤلفون: POLIANI, Pietro Luigi, FACCHETTI, Fabio, RAVANINI M, GENNERY AR, VILLA A, ROIFMAN CM, NOTARANGELO LD

المساهمون: Poliani, Pietro Luigi, Facchetti, Fabio, Ravanini, M, Gennery, Ar, Villa, A, Roifman, Cm, Notarangelo, Ld

مصطلحات موضوعية: Thymus, T-cell development, Omenn syndrome

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000267789800018; volume:114(1); firstpage:105; lastpage:108; numberofpages:4; journal:BLOOD; https://hdl.handle.net/20.500.11768/162504

الاتاحة: https://hdl.handle.net/20.500.11768/162504
https://doi.org/10.1182/blood-2009-03-211029