Zobrazeno 1 - 10
of 183
pro vyhledávání: '"X‐linked hyper‐IgM syndrome"'
Publikováno v:
BMC Pediatrics, Vol 23, Iss 1, Pp 1-6 (2023)
Abstract Background D40LG-associated X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis has rarely been reported, and its genotype-phenotypic correlation remains elusive. Case presentation We describe a five-month-old boy with CD40LG mut
Externí odkaz:
https://doaj.org/article/c1fbe9f4abc24409b41f021544025303
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background Hyper IgM syndromes (HIGMS) are a group of rare primary immunodeficiency disorders. There are limited reports about HIGMS combined with severe eosinophilia. Case presentation In this report, we described a 2-year-old boy with chro
Externí odkaz:
https://doaj.org/article/a9546b8ff0b84587b16b8198f40ccbea
Akademický článek
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Autor:
Valentina Vavassori, Elisabetta Mercuri, Genni E Marcovecchio, Maria C Castiello, Giulia Schiroli, Luisa Albano, Carrie Margulies, Frank Buquicchio, Elena Fontana, Stefano Beretta, Ivan Merelli, Andrea Cappelleri, Paola MV Rancoita, Vassilios Lougaris, Alessandro Plebani, Maria Kanariou, Arjan Lankester, Francesca Ferrua, Eugenio Scanziani, Cecilia Cotta‐Ramusino, Anna Villa, Luigi Naldini, Pietro Genovese
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 3, Pp 1-25 (2021)
Abstract Precise correction of the CD40LG gene in T cells and hematopoietic stem/progenitor cells (HSPC) holds promise for treating X‐linked hyper‐IgM Syndrome (HIGM1), but its actual therapeutic potential remains elusive. Here, we developed a on
Externí odkaz:
https://doaj.org/article/9aef4eba41804327af789ffa8b24647a
Autor:
Lorenza Romani, Peter Richard Williamson, Silvia Di Cesare, Gigliola Di Matteo, Maia De Luca, Rita Carsetti, Lorenzo Figà-Talamanca, Caterina Cancrini, Paolo Rossi, Andrea Finocchi
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
The hyper IgM syndromes are a rare group of primary immunodeficiency. The X-linked Hyper IgM syndrome (HIGM), due to a gene defect in CD40L, is the commonest variant; it is characterized by an increased susceptibility to a narrow spectrum of opportun
Externí odkaz:
https://doaj.org/article/91811472d57747bd81e888e4abb6ea01
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
Abstract Background X‐linked hyper‐IgM (X‐HIGM), which results from mutations in the CD40LG gene located on chromosome Xq26.3, is the most common form of HIGM. To date, more than 130 variants of the CD40L gene have been reported. We described a
Externí odkaz:
https://doaj.org/article/6f1f5fdf1a8445e9bda136e6d819fd07
Akademický článek
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Autor:
Caroline Y. Kuo, Joseph D. Long, Beatriz Campo-Fernandez, Satiro de Oliveira, Aaron R. Cooper, Zulema Romero, Megan D. Hoban, Alok V. Joglekar, Georgia R. Lill, Michael L. Kaufman, Sorel Fitz-Gibbon, Xiaoyan Wang, Roger P. Hollis, Donald B. Kohn
Publikováno v:
Cell Reports, Vol 23, Iss 9, Pp 2606-2616 (2018)
X-linked hyper-immunoglobulin M (hyper-IgM) syndrome (XHIM) is a primary immunodeficiency due to mutations in CD40 ligand that affect immunoglobulin class-switch recombination and somatic hypermutation. The disease is amenable to gene therapy using r
Externí odkaz:
https://doaj.org/article/a9f7ea463fcd4ac88ca63a2c49143223
Autor:
Weller, Sandra, Faili, Ahmad, Garcia, Corinne, Braun, Moritz C., Le Deist, Françoise, Hermine, Olivier, Fischer, Alain, Reynaud, Claude-Agnès, Weill, Jean-Claude
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2001 Jan . 98(3), 1166-1170.
Externí odkaz:
https://www.jstor.org/stable/3054839
Autor:
Pamela P. Lee, Mongkol Lao-araya, Jing Yang, Koon-Wing Chan, Haiyan Ma, Lim-Cho Pei, Lin Kui, Huawei Mao, Wanling Yang, Xiaodong Zhao, Muthita Trakultivakorn, Yu-Lung Lau
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Talaromyces (Penicillium) marneffei is an AIDS-defining infection in Southeast Asia and is associated with high mortality. It is rare in non-immunosuppressed individuals, especially children. Little is known about host immune response and genetic sus
Externí odkaz:
https://doaj.org/article/137d00061a194098bb88db9d5ba4d042