Zobrazeno 1 - 10
of 581
pro vyhledávání: '"L D Notarangelo"'
Publikováno v:
Science translational medicine [Sci Transl Med] 2016 Jun 01; Vol. 8 (341), pp. 341er5.
Autor:
Kol Zarember, Suk See De Ravin
Publikováno v:
Science translational medicine. 8(341)
X-linked severe combined immunodeficiency (SCID-X1) is a profound deficiency of T, B, and natural killer (NK) cell immunity caused by mutations in IL2RG encoding the common chain (γc) of several interleukin receptors. Gamma-retroviral (γRV) gene th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c795a3a06ee43e79b3d1c07d7a01c2d8
https://pubmed.ncbi.nlm.nih.gov/27099176
https://pubmed.ncbi.nlm.nih.gov/27099176
Autor:
C. Cattaneo, V. Cancelli, L. Imberti, K. Dobbs, A. Sottini, C. Pagani, A. Belotti, A. Re, A. Anastasia, V. Quaresima, A. Tucci, J. A. Chiorini, H. C. Su, J. I. Cohen, P. D. Burbelo, G. Rossi, L. D. Notarangelo
Publikováno v:
Blood Cancer Journal, Vol 11, Iss 9, Pp 1-7 (2021)
Abstract The ability of patients with hematologic malignancies (HM) to develop an effective humoral immune response after COVID-19 is unknown. A prospective study was performed to monitor the immune response to SARS-CoV-2 of patients with follicular
Externí odkaz:
https://doaj.org/article/cea6f51c95f94a45aac30de968f9c491
Autor:
C. Schuetz, J. Gerke, M. Ege, J. Walter, M. Kusters, A. Worth, J. A. Kanakry, D. Dimitrova, B. Wolska-Kuśnierz, K. Chen, E. Unal, M. Karakukcu, O. Pashchenko, J. Leiding, T. Kawai, P. J. Amrolia, D. Berghuis, J. Buechner, D. Buchbinder, M. J. Cowan, A. R. Gennery, T. Güngör, J. Heimall, M. Miano, I. Meyts, E. C. Morris, J. Rivière, S. O. Sharapova, P. J. Shaw, M. Slatter, M. Honig, P. Veys, A. Fischer, M. Cavazzana, D. Moshous, A. Schulz, M. H. Albert, J. M. Puck, A. C. Lankester, L. D. Notarangelo, B. Neven
Publikováno v:
Blood 141, 713-724 (2023)
Patients with hypomorphic mutations in the RAG1 or RAG2 gene present with either Omenn syndrome or atypical combined immunodeficiency with a wide phenotypic range. Hematopoietic stem cell transplantation (HSCT) is potentially curative, but data are s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::391459b4894750914486e9b5a718f87c
https://doi.org/10.1182/blood.2022017667
https://doi.org/10.1182/blood.2022017667
Autor:
L M, Ott de Bruin, M, Bosticardo, A, Barbieri, S G, Lin, J H, Rowe, P L, Poliani, K, Ching, D, Eriksson, N, Landegren, O, Kämpe, J P, Manis, L D, Notarangelo
Publikováno v:
Blood. 132(3)
Hypomorphic RAG1 mutations allowing residual T- and B-cell development have been found in patients presenting with delayed-onset combined immune deficiency with granulomas and/or autoimmunity (CID-G/AI) and abnormalities of the peripheral T- and B-ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0dad6451478d047d3c8c1d1c17264e66
https://pubmed.ncbi.nlm.nih.gov/29743177
https://pubmed.ncbi.nlm.nih.gov/29743177
Autor:
Andrea Rotulo, Isabella Ceccherini, Tiziana Lanza, Carlo Dufour, Angela Guarina, Antonino Trizzino, Marta Pillon, Giovanna Russo, Piero Farruggia, L. D. Notarangelo, Laura Porretti, Alice Grossi, Elena Mastrodicasa, Maurizio Miano, Laura Luti, Andrea Beccaria, Federico Verzegnassi, Angelica Barone, Francesca Fioredda
Publikováno v:
Blood. 134:3585-3585
Background Autoimmune neutropenia is a chronic reduction of absolute neutrophil below the threshold for age, due to peripheral destruction by specific antibodies (AaN). "Primary autoimmune neutropenia" (pAN) usually appears in early infancy and gener
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f654b5cb12a1a83e4f1927c042dbc3e
https://doi.org/10.1182/blood-2019-126526
https://doi.org/10.1182/blood-2019-126526
Autor:
Michaela Calvillo, Maria Giuseppina Cefalo, Elio Castagnola, Baldassarre Martire, Ilaria Caviglia, Mirella Davitto, Carlo Dufour, Fabio Tucci, Gabriella Casazza, Piero Farruggia, Francesca Fioredda, Elena Mastrodicasa, Marina Lanciotti, Chiara Cugno, Giovanni Palazzi, Angelica Barone, Sonia Bonanomi, Susanna Barella, Fabio Cardinale, Giovanna Russo, Silvia Caruso, L. D. Notarangelo
Publikováno v:
Pediatric Blood & Cancer. 62:1110-1112
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a4c0c07948cc6a7db28720c68c6fd066
https://doi.org/10.1002/pbc.25401
https://doi.org/10.1002/pbc.25401
Publikováno v:
Immunity, Inflammation & Disease. Nov2024, Vol. 12 Issue 11, p1-14. 14p.
Autor:
Marion Schneider, Rita Clementi, L D Notarangelo, Catherine Klersy, Stefania Varotto, Gianfranco Savoldi, Gritta Janka, Carmela De Fusco, Udo zur Stadt, Valentino Conter, Maurizio Aricò, Cesare Danesino
Publikováno v:
Journal of Medical Genetics. 38:643-646
Editor—The histiocytoses represent a heterogeneous group of disorders including both hereditary and sporadic forms. The familial form of haemophagocytic lymphohistiocytosis (HLH) was originally described by Farquhar and Claireaux1 in 1952. The main
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bf7e381090c5282fe9e3259f8b46eca
https://doi.org/10.1136/jmg.38.9.643
https://doi.org/10.1136/jmg.38.9.643
Publikováno v:
The Journal of Immunology. 155:2770-2774
In 1980 the clinical syndrome of X-linked hypogammaglobulinemia and isolated growth hormone deficiency (XLA/GHD) was described. XLA/GHD patients have reduced serum levels of Ig and normal cell-mediated immunity, and thus resemble patients with Bruton
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::37cb5dc7d7dc260481874eae26e803b7
https://doi.org/10.4049/jimmunol.155.5.2770
https://doi.org/10.4049/jimmunol.155.5.2770