Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Immunodeficiency With Hyper-IgM"'
Autor:
Vian Azzu, Dinakantha S. Kumararatne, J. David M. Edgar, William J.H. Griffiths, Mary Slatter, Beatriz Morillo-Gutierrez, Lucinda Kennard
Publikováno v:
The Journal of allergy and clinical immunology. 141(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0e2e84e2c24f4a0e35c816c7cb05910
https://pubmed.ncbi.nlm.nih.gov/28756297
https://pubmed.ncbi.nlm.nih.gov/28756297
Autor:
Rebecca H. Buckley
Publikováno v:
Paediatric Respiratory Reviews. 5:S225-S233
In the fifty years since Ogden Bruton discovered agammaglobulinemia, more than 100 additional immunodeficiency syndromes have been described. These disorders may involve one or more components of the immune system, including T, B, and NK lymphocytes;
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89715dc5c96288257795aece6909981c
https://doi.org/10.1016/s1526-0542(04)90043-7
https://doi.org/10.1016/s1526-0542(04)90043-7
Autor:
Lucia Dora Notarangelo, A. R. Hayward
Publikováno v:
Clinical and Experimental Immunology. 120:399-405
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::539a525719c98c8d8f98754d270bb219
https://doi.org/10.1046/j.1365-2249.2000.01142.x
https://doi.org/10.1046/j.1365-2249.2000.01142.x
Publikováno v:
Pediatric Asthma, Allergy & Immunology. 14:225-230
Immunodeficiency with hyper-IgM is characterized by increased susceptibility to infection, decreased concentrations of IgG and IgA and normal or elevated levels of IgM. It has been described in X-Iinked, autosomal recessive, autosomal dominant, and a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b7457b0a0a7dffd627b67e483dfc5a5
https://doi.org/10.1089/pai.2000.14.225
https://doi.org/10.1089/pai.2000.14.225
Publikováno v:
Clinical Genetics. 48:46-48
A 13-year-old boy with immunodeficiency with hyper-IgM was analyzed for mutations in the CD40L gene. An insertional mutation of an extra T in a run of four T's was found in the second exon of the gene, leading to a premature translation stop. Genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b71d34b3f75d0363fc1bfdd62ba64f84
https://doi.org/10.1111/j.1399-0004.1995.tb04053.x
https://doi.org/10.1111/j.1399-0004.1995.tb04053.x
Autor:
Hiroshi Uda, Tadamitsu Kishimoto, Toshio Tanaka, Yoshinori Katada, Masatoshi Hayashi, Masatoshi Shimizu, Osamu Saiki, Naokazu Kinoshita
Publikováno v:
Clinical Immunology and Immunopathology. 83:287-292
In an X-linked immunodeficiency with hyper IgM (X-HIM), several mutations of genes coding for CD40 ligand are responsible for B-cell defects. However, it is controversial whether the defective class switching from IgM to IgG or IgA but not IgE is res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::247a2c77bf8fb0b2956c0f144b5523af
https://doi.org/10.1006/clin.1997.4349
https://doi.org/10.1006/clin.1997.4349
Autor:
H Nunoi, Ichiro Matsuda, Osamu Saiki, Y Wada, H Uda, M Iwata, A Inoue, M Izeki, Y Katada, T Tanaka
Publikováno v:
Journal of Clinical Investigation. 95:510-514
The ligand for CD40 (CD40L) is a membrane protein on activated T cells that induces B cell proliferation and differentiation. Several mutations of the CD40L gene were reported responsible for defective class switching of B cells in an X-linked immuno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a36904ecb0e7f686b7e0f6969db8797
https://doi.org/10.1172/jci117692
https://doi.org/10.1172/jci117692
Autor:
Rebecca H. Buckley
Publikováno v:
Pediatric Clinics of North America. 41:665-690
In the 40 years since Ogden Bruton discovered agammaglobulinemia, more than 50 additional immunodeficiency syndromes have been described. Until recently, there was little insight into the fundamental problems underlying a majority of these conditions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4359c017074c15258f4f850e06dc79e
https://doi.org/10.1016/s0031-3955(16)38803-4
https://doi.org/10.1016/s0031-3955(16)38803-4
Autor:
Daniel Graf, M Padayachee, Hans W. Mages, Roland J. Levinsky, Alberto G. Ugazio, Sue Malcolm, Richard A. Kroczek, Francine Brière, Ulf Korthäuer, Luigi D. Notarangelo
Publikováno v:
Nature. 361:539-541
X chromosome-linked immunodeficiency with hyper-IgM (HIGM1, MIM number 308230) is a rare disorder characterized by recurrent bacterial infections, very low or absent IgG, IgA and IgE, and normal to increased IgM and IgD serum levels. HIGM1 has been s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da0241e95383d234e0280cf870397283
https://doi.org/10.1038/361539a0
https://doi.org/10.1038/361539a0