Abstract：
:Hereditary angioedema as a result of deficiency of the C1 inhibitor (HAE-C1INH; MIM# 106100) is a rare autosomal disorder and affected individuals are generally heterozygous for dominant negative variants in the SERPING1 gene. Homozygosity for SERPING1 pathogenic variants was long considered to be embryonically lethal; however, five nonrelated families with a recessive HAE pattern have been described in the last decade. In this report, we functionally characterized two newly reported nonrelated, consanguineous families with a recessive presentation of HAE attributed to SERPING1 variants in the reactive center loop (family D; S438F) and gate (family A; I379T) regions. S438F heterozygotes (family D) showed variable levels of intact 105-kDa and cleaved/inactive 96-kDa isoforms of C1INH, whereas their homozygous relative presented only the 96-kDa band. Functional studies showed that S438F reduced C1INH interaction with target proteases in heterozygous (C1s, 32-38% of controls and FXIIa, 28-35% of controls) and homozygous (C1s, 18-24% of controls and FXIIa, 4-8% of controls) carriers, which is consistent with the more severe presentation of HAE in the family and decreased C1q levels in homozygous patients. By contrast, plasma C1INH from I379T heterozygotes (family A) showed normal C1INH/C1s binding (84-94% of controls) and no significant reduction in C1INH/FXIIa complexes (50-70% of controls). However, the homozygote failed to inhibit both C1s (25-42% of controls) and FXIIa (14-18% of controls). This profile is concordant with the less severe presentation of HAE in the family and the conserved C4 and C1q levels in heterozygous and homozygous patients.
journal_name
Immunol Cell Bioljournal_title
Immunology and cell biologyauthors
Mete Gökmen N,Rodríguez-Alcalde C,Gülbahar O,Lopez-Trascasa M,Onay H,López-Lera Adoi
10.1111/imcb.12362subject
Has Abstractpub_date
2020-09-01 00:00:00pages
693-699issue
8eissn
0818-9641issn
1440-1711journal_volume
98pub_type
杂志文章abstract：:Productive immune responses to T-cell-dependent antigens ultimately generate two long-lived compartments: memory B cells and bone marrow-resident plasma cells, which both arise from within germinal centres. The ability of a B-cell clone to populate these effector compartments requires its descendents to outcompete tho...
journal_title：Immunology and cell biology
pub_type： 杂志文章,评审
doi：10.1038/sj.icb.7100148
更新日期：2008-02-01 00:00:00
abstract：:Intravenous (i.v.) immunization of mice with recombinant vaccinia viruses stimulated the highest antibody and cytotoxic T lymphocyte (CTL) responses when i.v., intraperitoneal (i.p.), intranasal (i.n.), footpad (f.p.) and tail scarification (t.s.) routes were compared. Intraperitoneal immunization of mice resulted in ...
journal_title：Immunology and cell biology
pub_type： 杂志文章
doi：10.1038/icb.1989.48
更新日期：1989-10-01 00:00:00
abstract：:During tuberculosis (TB) infection, the granuloma provides the microenvironment in which antigen-specific T cells colocate with and activate infected macrophages to inhibit the growth of Mycobacterium tuberculosis. Although the granuloma is the site for mycobacterial killing, virulent mycobacteria have developed a var...
journal_title：Immunology and cell biology
pub_type： 杂志文章,评审
doi：10.1038/sj.icb.7100027
更新日期：2007-02-01 00:00:00
abstract：:Parturition is associated with myometrial and cervical inflammation. The causes and consequences of this inflammatory response are not clear. Mast cells (MCs) are important inducers of allergic and non-allergic inflammation, and their secreted products can induce myometrial contractions. Thus, mast cell activation has...
journal_title：Immunology and cell biology
pub_type： 杂志文章
doi：10.1038/icb.2011.40
更新日期：2012-03-01 00:00:00
abstract：:The mechanisms involved in the inhibition of growth of a human B lymphoma cell line, B104, by anti-MHC class II antibodies (Ab) were compared with those in anti-IgM Ab-induced B104 growth inhibition. Two anti-MHC class II Ab, L227 and 2.06, inhibited the growth of B104 cells, although 2.06, but not L227, needed to be ...
journal_title：Immunology and cell biology
pub_type： 杂志文章
doi：10.1038/icb.1994.31
更新日期：1994-06-01 00:00:00
abstract：:There has been a tremendous explosion in the area of DNA vaccine research over the last 4 years, particularly in relation to antiviral vaccines. This report discusses the development and application of this new technology with regard to parasitic infections. Progress has been made towards the development of a vaccine ...
journal_title：Immunology and cell biology
pub_type： 杂志文章,评审
doi：10.1038/icb.1997.58
更新日期：1997-08-01 00:00:00
abstract：:Previous reports have documented that mice bearing plasmacytomas (PC) are suppressed in their ability to mount a primary antibody response, whereas cellular immunity appears to be normal. Studies presented here provide evidence that T cell responsiveness is also depressed in BALB/c mice bearing the Lieberman plasmacyt...
journal_title：Immunology and cell biology
pub_type： 杂志文章
doi：10.1038/icb.1991.3
更新日期：1991-02-01 00:00:00
abstract：:The signals that determine the survival/death of the thymic epithelial cells (TECs) component during embryonic development of the thymus are largely unknown. In this study, we combine different in vivo and in vitro experimental approaches to define the role played by the tyrosine kinase receptors EphB2 and EphB3 and t...
journal_title：Immunology and cell biology
pub_type： 杂志文章
doi：10.1038/icb.2012.59
更新日期：2013-02-01 00:00:00
abstract：:Human regulatory T cells (Tregs) expressing the transcription factor FoxP3 play indispensable roles for the maintenance of immunological self-tolerance and immune homeostasis. In this review, we discuss immunological characteristics of human FoxP3(+) Tregs and to what extent they are similar to or different from the m...
journal_title：Immunology and cell biology
pub_type： 杂志文章,评审
doi：10.1038/icb.2010.137
更新日期：2011-03-01 00:00:00
abstract：:The cellular effects of biodiesel emissions particulate matter (BDEP) and petroleum diesel emissions particulate matter (PDEP) were compared using a human airway cell line, A549. At concentrations of 25 microg/ml, diesel particulate matter induced the formation of multinucleate cells. In cells treated with a mixture o...
journal_title：Immunology and cell biology
pub_type： 杂志文章
doi：10.1038/sj.icb.7100109
更新日期：2007-11-01 00:00:00
abstract：:Selection of conventional CD4(+) or CD8(+) T cells is usually driven by the interaction of double-positive CD4(+)CD8(+) thymocytes with epithelial cells. Here, we demonstrate preferential selection of CD8(+) thymocytes from in vitro differentiation of CD4(+)CD8(+) double-positive thymocytes exhibiting the characterist...
journal_title：Immunology and cell biology
pub_type： 杂志文章
doi：10.1038/icb.2013.94
更新日期：2014-04-01 00:00:00
abstract：:The broadest definition of dendritic cells (DCs) is white blood cells that can take up antigen, process it and then present antigen-derived peptides to activate cognate naive T cells. Although this definition is by no means perfect, it is nevertheless now textbook. The source of frustration more recently has focused o...
journal_title：Immunology and cell biology
pub_type： 杂志文章,评审
doi：10.1038/icb.2008.28
更新日期：2008-07-01 00:00:00
abstract：:Active Brugia pahangi microfilariae (Mf) were injected into naive male BALB/c mice intraperitoneally. Microfilaraemia was studied for 28 days; and Mf circulated in blood in optimum numbers from 3 to 14 days. Anti-Mf response was assessed by the rate of disappearance of Mf from blood as well as their absence from visce...
journal_title：Immunology and cell biology
pub_type： 杂志文章
doi：10.1038/icb.1988.43
更新日期：1988-10-01 00:00:00
abstract：:Genetic variants of interleukin 2 (IL-2) and its receptor are associated with murine and human susceptibility to Type 1 diabetes, yet the role of IL-2 in controlling pancreatic islet-reactive T cells is unknown. Here, we develop a model where IL-2 deficiency precipitates a breakdown of self-tolerance and progression t...
journal_title：Immunology and cell biology
pub_type： 杂志文章
doi：10.1038/sj.icb.7100049
更新日期：2007-06-01 00:00:00
abstract：:Deoxyspergualin (DOSP) is a new immunosuppressive agent which probably inhibits various functions of monocytes, B cells and T cells. We examined the effects of deoxyspergualin on cellular cytotoxicity, including cytotoxic T lymphocyte (CTL) mediated killer, natural killer (NK) cell and lymphokine activated killer (LAK...
journal_title：Immunology and cell biology
pub_type： 杂志文章
doi：10.1038/icb.1991.26
更新日期：1991-06-01 00:00:00
abstract：:The possible role and influence of tumour necrosis factor-alpha (TNF-alpha) in the human mixed lymphocyte culture (MLC) reaction was investigated. Polyclonal rabbit sera to recombinant human-TNF-alpha (rhTNF-alpha) consistently inhibited the MLC, and this could be reversed by simultaneous addition of rhTNF-alpha to th...
journal_title：Immunology and cell biology
pub_type： 杂志文章
doi：10.1038/icb.1992.15
更新日期：1992-04-01 00:00:00
abstract：:By hybridization with a human interleukin-6 (IL-6) cDNA fragment a corresponding ruminant (ovine) cDNA was isolated from a lipopolysaccharide (LPS)-stimulated alveolar macrophage library. The nucleotide sequence of the cDNA and the predicted amino acid sequence of the protein showed significant homology to the human a...
journal_title：Immunology and cell biology
pub_type： 杂志文章
doi：10.1038/icb.1993.39
更新日期：1993-08-01 00:00:00
abstract：:The evolutionarily conserved catabolic process of autophagy involves the degradation of cytoplasmic components through lysosomal enzymes. Basal levels of autophagy maintain cellular homeostasis and under stress conditions high levels of autophagy are induced. It is often under such stress conditions that high levels o...
journal_title：Immunology and cell biology
pub_type： 杂志文章,评审
doi：10.1038/icb.2014.85
更新日期：2015-01-01 00:00:00
abstract：:See also: Outstanding Observation by Wirasinha et al., Short Communication by Barnes & Cyster. ...
journal_title：Immunology and cell biology
pub_type： 评论,杂志文章
doi：10.1111/imcb.12027
更新日期：2018-04-01 00:00:00
abstract：:The goal of this study was to further characterize the interaction between an abundant urinary glycoprotein, Tamm-Horsfall protein, and complement 1q to determine the robustness of this reaction under different environmental conditions (particularly pH) and to begin to determine the specificity of this reaction. The i...
journal_title：Immunology and cell biology
pub_type： 杂志文章
doi：10.1046/j.1440-1711.2002.01125.x
更新日期：2002-12-01 00:00:00
abstract：:The Australian populations of rainbow trout (Onchorhynchus mykiss) and Atlantic salmon (Salmo salar) were found to have similar immunological responses to local strains of Vibrio anguillarum as those reported for the more genetically diverse populations of these fish and strains of V. anguillarum found in the Northern...
journal_title：Immunology and cell biology
pub_type： 杂志文章
doi：10.1038/icb.1992.51
更新日期：1992-12-01 00:00:00
abstract：:CD4(+) T cells are activated upon recognition of peptide antigen in the context of MHC class II molecules, expressed by specialized APC. In this study, we show that CD4(+) T cells cross-compete for antigenic complexes on the surface of APC, inhibiting activation of other potentially reactive T cells of the same and di...
journal_title：Immunology and cell biology
pub_type： 杂志文章
doi：10.1046/j.0818-9641.2004.01233.x
更新日期：2004-04-01 00:00:00
abstract：:Lymphocytes exchanged rapidly and extensively between mutually tolerant, allogeneic rats following surgical parabiosis. Tolerated allogeneic cells persisted for an extended period in parabiotic partners after separation. A rapid exchange of cells was also observed between parabiosed syngeneic pairs of normal and allog...
journal_title：Immunology and cell biology
pub_type： 杂志文章
doi：10.1038/icb.1987.29
更新日期：1987-06-01 00:00:00
abstract：:There is a need for non-living adjuvant vectors that will allow a full range of local and systemic immune responses to orally administered purified antigens. Here we describe our experience with lipophilic immune-stimulating complexes (ISCOMs) containing the saponin adjuvant Quil A. When given orally, ISCOMs containin...
journal_title：Immunology and cell biology
pub_type： 杂志文章,评审
doi：10.1046/j.1440-1711.1998.00749.x
更新日期：1998-06-01 00:00:00
abstract：:The ability to accurately quantitate and experimentally examine epigenetic modifications across the human genome has exploded in the past decade. This has given rise to a wealth of new information concerning the contributions of epigenetic regulatory networks to the pathogenesis of human disease. In particular, immuno...
journal_title：Immunology and cell biology
pub_type： 杂志文章,评审
doi：10.1038/icb.2014.105
更新日期：2015-03-01 00:00:00
abstract：:Despite the potential for extensive diversity of gamma delta TCR, especially for delta-chains, expression of the gamma delta TCR repertoire in various mouse epithelial tissues is highly restricted. This implies that the recognition of antigen by gamma delta T cells may also be limited. To date, however, few studies ha...
journal_title：Immunology and cell biology
pub_type： 杂志文章
doi：10.1038/icb.1996.56
更新日期：1996-08-01 00:00:00
abstract：:Infection of mice with the flaviviruses West Nile virus (WNV) and Murray Valley encephalitis (MVE) induces cytolytic T-cell responses which are highly cross-reactive on target cells infected with heterologous flaviviruses. Of C57BL/6 mice infected with low doses (10(2)-10(6) PFU) of either virus, 30-40% develop enceph...
journal_title：Immunology and cell biology
pub_type： 杂志文章
doi：10.1046/j.0818-9641.2004.01227.x
更新日期：2004-04-01 00:00:00
abstract：:The recognition of T cell receptors (TCR) by purified major histocompatibility complex (MHC) class II-peptide complexes in the absence of costimulatory signals leads to the induction of T cell non-responsiveness or anergy. In a recent study using human T cell clones, it was observed that prolonged incubation of restin...
journal_title：Immunology and cell biology
pub_type： 杂志文章
doi：10.1038/icb.1996.13
更新日期：1996-02-01 00:00:00
abstract：:The pathogenesis of autoimmune disease remains an enigma. Here, the condition is analysed from an evolutionary standpoint, and the thesis developed that viruses, in particular retroviruses, are important to our evolution, and that their inappropriate re-expression by repetitive (? ischaemic) cell damage in individuals...
journal_title：Immunology and cell biology
pub_type： 杂志文章,评审
doi：10.1038/icb.1997.78
更新日期：1997-10-01 00:00:00
abstract：:The Kunjin replicon was used to express a polytope that consisted of seven hepatitis C virus cytotoxic T lymphocyte epitopes and one influenza cytotoxic T lymphocyte epitope for vaccination studies. The self-replicating nature of, and expression from, the ribonucleic acid was confirmed in vitro. Initial vaccinations w...
journal_title：Immunology and cell biology
pub_type： 杂志文章
doi：10.1046/j.0818-9641.2002.01137.x
更新日期：2003-02-01 00:00:00
