全文获取类型
收费全文 | 106篇 |
免费 | 8篇 |
专业分类
儿科学 | 4篇 |
基础医学 | 71篇 |
口腔科学 | 1篇 |
临床医学 | 5篇 |
内科学 | 27篇 |
皮肤病学 | 1篇 |
神经病学 | 2篇 |
综合类 | 1篇 |
预防医学 | 1篇 |
眼科学 | 1篇 |
出版年
2022年 | 6篇 |
2021年 | 5篇 |
2019年 | 1篇 |
2018年 | 5篇 |
2017年 | 1篇 |
2016年 | 5篇 |
2015年 | 2篇 |
2014年 | 4篇 |
2013年 | 7篇 |
2012年 | 9篇 |
2011年 | 8篇 |
2010年 | 4篇 |
2009年 | 8篇 |
2008年 | 12篇 |
2007年 | 9篇 |
2006年 | 7篇 |
2005年 | 2篇 |
2004年 | 4篇 |
2003年 | 4篇 |
2002年 | 2篇 |
2000年 | 2篇 |
1999年 | 2篇 |
1998年 | 3篇 |
1997年 | 2篇 |
排序方式: 共有114条查询结果,搜索用时 0 毫秒
1.
Janina Trauth Thomas Discher Moritz Fritzenwanker Can Imirzalioglu Tobias Arnold Dagmar Steiner Elvira Richter Laura Crisponi Bodo Grimbacher Susanne Herold 《Emerging infectious diseases》2022,28(7):1506
Mycobacterium genavense infection, a rare nontuberculous mycobacteria infection, occurs in heavily immunocompromised patients (i.e., those with advanced HIV disease, genetic disorders, or acquired immunologic disorders and those undergoing immunosuppressive therapy). We report a case of disseminated M. genavense infection preceding Hodgkin lymphoma in a patient without obvious risk factors for this infection. 相似文献
2.
Etiologies for human hypogammaglobulinemias are diverse and include genetic and nongenetic causes. Although recent reviews
focus on the complex genetics of common variable immunodeficiency, in this review, we survey different causes of hypogammaglobulinemias
and discuss possible mechanisms. 相似文献
3.
Heiko Sic Helene Kraus Josef Madl Karl-Andreas Flittner Audrey Lilly von Münchow Kathrin Pieper Marta Rizzi Anne-Kathrin Kienzler Korcan Ayata Sebastian Rauer Burkhard Kleuser Ulrich Salzer Meike Burger Katja Zirlik Vassilios Lougaris Alessandro Plebani Winfried Römer Christoph Loeffler Samantha Scaramuzza Anna Villa Emiko Noguchi Bodo Grimbacher Hermann Eibel 《The Journal of allergy and clinical immunology》2014
4.
Kathrin Pieper Marta Rizzi Matthaios Speletas Cristian R. Smulski Heiko Sic Helene Kraus Ulrich Salzer Gina J. Fiala Wolfgang W. Schamel Vassilios Lougaris Alessandro Plebani Lennart Hammarstrom Mike Recher Anastasios E. Germenis Bodo Grimbacher Klaus Warnatz Antonius G. Rolink Pascal Schneider Luigi D. Notarangelo Hermann Eibel 《The Journal of allergy and clinical immunology》2014
5.
Abdollahpour H Appaswamy G Kotlarz D Diestelhorst J Beier R Schäffer AA Gertz EM Schambach A Kreipe HH Pfeifer D Engelhardt KR Rezaei N Grimbacher B Lohrmann S Sherkat R Klein C 《Blood》2012,119(15):3450-3457
We describe a novel clinical phenotype associating T- and B-cell lymphopenia, intermittent neutropenia, and atrial septal defects in 3 members of a consanguineous kindred. Their clinical histories included recurrent bacterial infections, viral infections, mucocutaneous candidiasis, cutaneous warts, and skin abscesses. Homozygosity mapping and candidate gene sequencing revealed a homozygous premature termination mutation in the gene STK4 (serine threonine kinase 4, formerly having the symbol MST1). STK4 is the human ortholog of Drosophila Hippo, the central constituent of a highly conserved pathway controlling cell growth and apoptosis. STK4-deficient lymphocytes and neutrophils exhibit enhanced loss of mitochondrial membrane potential and increased susceptibility to apoptosis. STK4 deficiency is a novel human primary immunodeficiency syndrome. 相似文献
6.
Neil Romberg Nicolas Chamberlain David Saadoun Maurizio Gentile Tuure Kinnunen Yen Shing Ng Manmeet Virdee Laurence Menard Tineke Cantaert Henner Morbach Rima Rachid Natalia Martinez-Pomar Nuria Matamoros Raif Geha Bodo Grimbacher Andrea Cerutti Charlotte Cunningham-Rundles Eric Meffre 《The Journal of clinical investigation》2013,123(10):4283-4293
Common variable immune deficiency (CVID) is an assorted group of primary diseases
that clinically manifest with antibody deficiency, infection susceptibility, and
autoimmunity. Heterozygous mutations in the gene encoding the tumor necrosis factor
receptor superfamily member TACI are associated with CVID and autoimmune
manifestations, whereas two mutated alleles prevent autoimmunity. To assess how the
number of TACI mutations affects B cell activation and
tolerance checkpoints, we analyzed healthy individuals and CVID patients carrying one
or two TACI mutations. We found that TACI interacts with the
cleaved, mature forms of TLR7 and TLR9 and plays an important role during B cell
activation and the central removal of autoreactive B cells in healthy donors and CVID
patients. However, only subjects with a single TACI mutation
displayed a breached immune tolerance and secreted antinuclear antibodies (ANAs).
These antibodies were associated with the presence of circulating B cell lymphoma
6–expressing T follicular helper (Tfh) cells, likely stimulating autoreactive
B cells. Thus, TACI mutations may favor CVID by altering B cell
activation with coincident impairment of central B cell tolerance, whereas residual B
cell responsiveness in patients with one, but not two, TACI
mutations enables autoimmune complications. 相似文献
7.
JS Orange BH Belohradsky M Berger M Borte J Hagan S Jolles RL Wasserman JS Baggish R Saunders B Grimbacher 《Clinical and experimental immunology》2012,169(2):172-181
The importance of serum immunoglobulin (Ig)G concentration in IgG replacement therapy for primary immunodeficiency diseases is established in certain settings. Generally, IgG is infused via the intravenous (IVIG) or subcutaneous (SCIG) route. For IVIG infusion, published data demonstrate that higher IgG doses and trough levels provide patients with improved protection from infection. The same conclusions are not yet accepted for SCIG; data from two recent Phase III studies and a recent post-hoc analysis, however, suggest the same correlation between higher SCIG dose and serum IgG concentration and decreased incidence of infection seen with IVIG. Other measures of clinical efficacy have not been considered similarly. Thus, combined analyses of these and other published SCIG studies were performed; a full comparison of the 13 studies was, however, limited by non-standardized definitions and reporting. Despite these limitations, our analyses indicate that certain clinical outcomes improve at higher SCIG doses and associated higher serum IgG concentrations, and suggest that there might be opportunity to improve patient outcomes via SCIG dose adjustment. 相似文献
8.
Martini H Enright V Perro M Workman S Birmelin J Giorda E Quinti I Lougaris V Baronio M Warnatz K Grimbacher B 《Clinical and experimental immunology》2011,164(3):381-387
We were interested in the question of whether the congenital lack of B cells actually had any influence on the development of the T cell compartment in patients with agammaglobulinaemia. Sixteen patients with X‐linked agammaglobulinaemia (XLA) due to mutations in Btk, nine patients affected by common variable immune deficiency (CVID) with <2% of peripheral B cells and 20 healthy volunteers were enrolled. The T cell phenotype was determined with FACSCalibur and CellQuest Pro software. Mann–Whitney two‐tailed analysis was used for statistical analysis. The CD4 T cell memory compartment was reduced in patients with XLA of all ages. This T cell subset encompasses both CD4+CD45RO+ and CD4+CD45RO+CXCR5+ cells and both subsets were decreased significantly when compared to healthy controls: P = 0·001 and P < 0·0001, respectively. This observation was confirmed in patients with CVID who had <2% B cells, suggesting that not the lack of Bruton's tyrosine kinase but the lack of B cells is most probably the cause of the impaired CD4 T cell maturation. We postulate that this defect is a correlate of the observed paucity of germinal centres in XLA. Our results support the importance of the interplay between B and T cells in the germinal centre for the activation of CD4 T cells in humans. 相似文献
9.
D. Schubert J. Hülsdünker Z. Eskandarian A. Dudek A. Schmitt‐Graeff J. Wanders S. F. Jørgensen B. Fevang U. Salzer A. Nieters S. Burns B. Grimbacher 《Clinical and experimental immunology》2016,183(2):221-229
The gene PIK3CD codes for the catalytic subunit of phosphoinositide 3‐kinase δ (PI3K δ ), and is expressed solely in leucocytes. Activating mutations of PIK3CD have been described to cause an autosomal dominant immunodeficiency that shares clinical features with common variable immunodeficiency (CVID). We screened a cohort of 669 molecularly undefined primary immunodeficiency patients for five reported mutations (four gain‐of‐function mutations in PIK3CD and a loss of function mutation in PIK3R1) using pyrosequencing. PIK3CD mutations were identified in three siblings diagnosed with CVID and two sporadic cases with a combined immunodeficiency (CID). The PIK3R1 mutation was not identified in the cohort. Our patients with activated PI3Kδ syndrome (APDS) showed a range of clinical and immunological findings, even within a single family, but shared a reduction in naive T cells. PIK3CD gain of function mutations are more likely to occur in patients with defective B and T cell responses and should be screened for in CVID and CID, but are less likely in patients with a pure B cell/hypogammaglobulinaemia phenotype. 相似文献
10.