Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency.Defects of the gc-JAK3 signaling pathway as a model

Autor: Fabio Candotti, Silvia Giliani, Maurilia Fiorini, Carmen Rodriguez-Perez, Gianfranco Savoldi, Mauno Vihinen, Richard Fabian Schumacher, Luigi D. Notarangelo, Alberto G. Ugazio, Evelina Mazzolari, Marzia Duse, Alessandro Plebani, Patrizia Mella, Cinzia Mazza

Publikováno v: Immunological Reviews. 178:39-48

Cytokines play a major role in lymphoid development. Defects of the common gamma chain (gamma(c)) or of the JAK3 protein in humans have been shown to result in a severe combined immune deficiency (SCID), with a profound defect in T and natural killer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::836d48dacfb15bca05dc892b3378b387
https://doi.org/10.1034/j.1600-065x.2000.17812.x

Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism

Autor: Silvia Giliani, Richard Fabian Schumacher, Maurilia Fiorini, Andrea Tampalini, Gianfranco Savoldi, Fabio Candotti, John J. O'Shea, Luigi D. Notarangelo, Raffaele Badolato, Anna Villa, Patrizia Mella

Publikováno v: Human Genetics. 106:73-79

JAK3 deficiency in humans results in autosomal recessive T–B+ severe combined immunodeficiency disease (SCID), a severe immunodeficiency that can only be cured by bone marrow transplantation. We unraveled the complete organization of the human JAK3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e4bab265c8e92b2ec81c7e64512818e
https://doi.org/10.1007/s004399900200

Contents Vol. 141, 2006

Autor: S. Ma, Kazuo Takahashi, Per Stahl Skov, Masatoshi Nakazawa, Zahra Pourpak, Seiko Shigeta, B. Ho, Mutsuhiko Minami, Josef J.M. van der Steen, Takeshi Kato, Asghar Aghamohammadi, Mehdi Yeganeh, Claude André, Guy Brusselle, Ali Salavati, Thomas Fuchs, Toshio Miyawaki, Tsutomu Hirasawa, Naoya Yoshioka, Maurilia Fiorini, Janne Björkander, Tjeerd Blacquière, Sina Abdollahzade, Tania Maes, Kouichi Mitsuishi, Masatosi Oshita, Ko Okumura, Neil Goodman, Yuko Kikuchi, Guy Joos, Kazuo Nishikawa, Nicole Graf, Katarzyna Wosińska, Graham Jones, Johannes Ring, Mikiko Ota, Francisque Leynadier, Luigi D. Notarangelo, Zenro Ikezawa, Graeme J. Stewart, Gabriela Senti, Paul G.H. Mulder, Ruben Oliver, Hideoki Ogawa, Alessandro Maselli Del Giudice, A. Lee, Gian Luigi Marseglia, Nima Parvaneh, Norihiko Fukuoka, Tsunehiro Aki, T.-N. Tan, H. P. van Bever, Ana I. Tabar, B.W. Lee, Nima Rezaei, Seiji Kawamoto, Francesca Goffi, D.L.M. Goh, Monica Arvidsson, Michiko Aihara, Chiaki Iwamura, Sabina Rak, Floriano Bonifazi, Hans de Groot, Lian Duan, Matteo Gelardi, Setsuko Matsukura, Shigaku Ikeda, Marta Anda, Takaharu Hayashi, Pål Johansen, L.P. Shek, Roy Gerth van Wijk, Chunping Xu, Michaela Allen, Maria Luisa Fiorella, Wei He, Brunello Wüthrich, Nicolette W. de Jong, Halina Plewako, Bettina M. Prinz Vavricka, Hirokazu Kanegane, Giorgio Ciprandi, Kazuhisa Ono, Ali Akbar Amirzargar, Alessandro Plebani, Thomas M. Kündig, Shahram Teimourian, S. Galvain, Natalie S. Page, P. Sangsupawanich, Maria Beatrice Bilò, Romain Pauwels, Ken R. Bracke, Lena Håkansson, Ken Takeda, Karim Vermaelen, Catherine Klersy, Christ C. Smeekens, Toshiro Takai, Ingel K. Demedts, Chi Ma, Nima Pouladi, Mostafa Moin, Teresa Candreva

Publikováno v: International Archives of Allergy and Immunology. 141:419-421

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4b86ed665d57b324e22f231a17a44dac
https://doi.org/10.1159/000097037

A PCR-based non-radioactive X-chromosome inactivation assay for genetic counseling in X-linked primary immunodeficiencies

Autor: Hedy Smith, Georg S. Wengler, Alberto G. Ugazio, Luigi D. Notarangelo, Ornella Parolini, Maurilia Fiorini, Patrizia Mella

Publikováno v: Life Sciences. 61:1405-1411

The Wiskott-Aldrich syndrome (WAS), X-linked severe combined immunodeficiency (SCIDX1), and X-linked agammaglobulinemia (XLA) are severe congenital immunodeficiencies with X-linked inheritance. Although rare, they are all associated with severe infec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::778a9855350897088e4c8ac1a83339f3
https://doi.org/10.1016/s0024-3205(97)00686-3

In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDX1)

Autor: Evelina Mazzolari, Silvia Giliani, Duilio Brugnoni, Arnalda Lanfranchi, Patrizia Mella, Tiziana Frusca, Maurilia Fiorini, Rosanna Verardi, Sergio Pecorelli, Fulvio Porta, Arabella Neva, Georg S. Wengler, Fabiola Guandalini, Alberto G. Ugazio, Luigi D. Notarangelo

Publikováno v: The Lancet. 348:1484-1487

Summary Background X-linked severe combined immunodeficiency (SCIDX1) is an inherited immune defect which leads to death in infancy from severe infections. The defect is caused by mutations of the IL-2RG gene that encodes for the common γ chain shar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::013f9b667eca5562e1bf60bc5b3cc13c
https://doi.org/10.1016/s0140-6736(96)09392-0