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001-es BibID:	BIBFORM131618
035-os BibID:	(WoS)000176012600004 (Scopus)0035992264
Első szerző:	Sümegi János
Cím:	A Spectrum of Mutations in SH2D1A That Causes X-linked Lymphoproliferative Disease and Other Epstein-Barr Virus-associated Illnesses / János Sumegi, Thomas A. Seemayer, Dali Huang, Jack R. Davis, Massimo Morra, Thomas G. Gross, Luo Yin, Giovanni Romco, Eva Klein, Cox Terhorst, Árpád Lányi
Dátum:	2002
ISSN:	1042-8194
Megjegyzések:	X-linked lymphoproliferative disease (Duncan's Disease) was first encountered by David T. Purtilo in 1969. The first communication describing the disease was published in 1975. In 1989 the disease locus was mapped to Xq25. Ten years later the gene (SH2D1A, SAP, DSHP), which is absent or mutated in XLP patients was identified. Since that the protein crystal structure of this small, SH2-domain containing protein has been solved, target molecules of the protein have been identified, physiological and pathological protein/protein interactions have been characterized, and the mouse model of the gene mutation has been developed. That said, a complete understanding of the function of the normal SH2D1A protein in immunoregulation and of the altered immune responses in XLP patients is not yet at hand. Therein lies the legacy of Purtilo's discovery for, as with other primary immunodeficiencies, these "experiments of nature" offer a window on the beauty of the immune system. In due course, the manner by which this gene orchestrates an elegant response (akin to a Mozart divertimento) to EBV infection shall be defined.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk X-linked lymphoproliferative disease SH2D1A Mutations T- and B-cells
Megjelenés:	Leukemia & Lymphoma. - 43 : 6 (2002), p. 1189-1201. -
További szerzők:	Seemayer, Thomas A. Huang, Dali Davis, Jack R. Morra, Massimo Gross, Thomas G. Yin, Luo Romco, Giovanni Klein Éva Terhorst, Cox Lányi Árpád (1962-) (biológus, immunológus)
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM065565
Első szerző:	Sümegi János
Cím:	Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease / Janos Sumegi, Dali Huang, Arpad Lanyi, Jack D. Davis, Thomas A. Seemayer, Akihiko Maeda, George Klein, Marco Seri, Hiroshi Wakiguchi, David T. Purtilo, Thomas G. Gross
Dátum:	2000
ISSN:	0006-4971
Megjegyzések:	The purposes of this study were to determine the frequency of mutations in SH2D1A in X-linked lymphoproliferative disease (XLP) and the role of SH2D1A mutations and Epstein-Barr virus (EBV) infection in determining the phenotype and outcome of patients with XLP. Analysis of 35 families from the XLP Registry revealed 28 different mutations in 34 families-large genomic deletions (n = 3), small intragenic deletions (n = 10), splice-site (n = 3), nonsense (n = 3), and missense (n = 9) mutations. No mutations were found in 25 males, so-called sporadic XLP (males with an XLP phenotype after EBV infection but no family history of XLP) or in 9 patients with chronic active EBV syndrome. Of 304 symptomatic males in the XLP Registry, 38 had no evidence of EBV infection at first clinical manifestation. When fulminant infectious mononucleosis (FIM) was excluded, there was no statistical difference in the frequency of EBV infectivity in the other XLP phenotypes. Furthermore, there was no difference at age of first clinical manifestation between EBV(+) and EBV(-) males or in survival when patients with FIM were excluded. In conclusion, it was found that mutations in the SH2D1A gene are responsible for XLP but that there is no correlation between genotype and phenotype or outcome. It was also found that though EBV infection often results in FIM, it is unnecessary for the expression of other manifestations of XLP, and it correlates poorly with outcome. These results suggest that unidentified factors, either environmental or genetic (eg, modifier genes), contribute to the pathogenesis of XLP.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Blood 96 : 9 (2000), p. 3118-3125. -
További szerzők:	Huang, Dali Lányi Árpád (1962-) (biológus, immunológus) Davis, Jack Seemayer, Thomas A. Maeda, Akihiko Klein, George Seri, Marco Wakiguchi, Hiroshi Purtilo, David T. Gross, Thomas G.
Internet cím:	Szerző által megadott URL Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon: