Abstract:
:While inherited X-linked (XL) isolated thrombocytopenia is a mild condition, the Wiskott-Aldrich syndrome (WAS) associates severe thrombocytopenia with an immunodeficiency component and has a poor prognosis. Whether these conditions correspond to separate genetic entities or to different mutations of the same gene(s) remains unresolved. The Wiskott-Aldrich syndrome locus has been assigned to Xp 11.2 by means of RFLP studies. The X-inactivation pattern in female carriers has been found to follow a skewed pattern in the hematopoietic cells, thus allowing carrier detection. We studied a family with four members affected by XL thrombocytopenia and report the results of genetic segregation analysis, together with the X-inactivation pattern of hematopoietic cells from an obligate female carrier. Although the affected locus mapped to the same region as that of WAS, lymphocytes presented a skewed pattern of X-inactivation, whereas polymorphonuclear lymphocytes (PMN) did not. These results provide further evidence that the Wiskott-Aldrich syndrome and XL thrombocytopenia are different expressions of mutations within a single locus and that the severity of the disease corresponds to distinct hematopoietic cell selections in obligate carriers.
journal_name
Ann Hematoljournal_title
Annals of hematologyauthors
De Saint-Basile G,Schlegel N,Caniglia M,Le Deist F,Kaplan C,Lecompte T,Piller F,Fischer A,Griscelli Cdoi
10.1007/BF01707282subject
Has Abstractpub_date
1991-08-01 00:00:00pages
107-10issue
2eissn
0939-5555issn
1432-0584journal_volume
63pub_type
杂志文章abstract::Multiple myeloma is a malignant B-cell neoplasm that involves the skeleton in approximately 80% of the patients. With an average age of 60 years and a 5-years survival of nearly 45% Brenner et al. (Blood 111:2516-2520,35) the onset is to be classified as occurring still early in life while the disease can be very aggr...
journal_title:Annals of hematology
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journal_title:Annals of hematology
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journal_title:Annals of hematology
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journal_title:Annals of hematology
pub_type: 杂志文章
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journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
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journal_title:Annals of hematology
pub_type: 杂志文章
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-005-1058-9
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journal_title:Annals of hematology
pub_type: 杂志文章
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更新日期:1996-01-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/BF01696222
更新日期:1992-04-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-006-0099-z
更新日期:2006-06-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00277-020-03942-6
更新日期:2020-04-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-020-04056-9
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770050474
更新日期:1999-02-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-010-1072-4
更新日期:2011-03-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-015-2479-8
更新日期:2015-12-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-014-2110-4
更新日期:2014-10-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770000267
更新日期:2001-04-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
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journal_title:Annals of hematology
pub_type: 杂志文章
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journal_title:Annals of hematology
pub_type: 临床试验,杂志文章,多中心研究
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-013-1785-2
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journal_title:Annals of hematology
pub_type: 杂志文章
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更新日期:2001-12-01 00:00:00
abstract::Patients with non-Hodgkin's lymphoma (NHL) receiving rituximab-containing chemotherapy are at risk of developing respiratory complications, but comprehensive information on these complications and their impact on survival is lacking. We performed a retrospective cohort analysis on 123 NHL patients who received rituxim...
journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
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journal_title:Annals of hematology
pub_type: 杂志文章
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更新日期:2011-10-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770050437
更新日期:1998-10-01 00:00:00
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journal_title:Annals of hematology
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更新日期:2017-01-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
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更新日期:2017-01-01 00:00:00
abstract::Gastric MALT lymphoma is closely associated with Helicobacter pylori infection. Bacterial eradication therapy comprising clarithromycin is the first-line treatment in gastric MALT lymphoma patients. However, antimicrobial resistance to clarithromycin has been increasing in Europe, and thus far, it has not been examine...
journal_title:Annals of hematology
pub_type: 杂志文章
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更新日期:2016-06-01 00:00:00
abstract::Currently, the diagnosis of acute graft-versus-host disease (aGVHD) is mainly based on clinical symptoms and biopsy results. This study was designed to further explore new no noninvasive biomarkers for aGVHD prediction/diagnosis. We profiled miRNAs in serum pools from patients with aGVHD (grades II-IV) (n = 9) and non...
journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
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更新日期:2016-10-01 00:00:00