Abstract:
OBJECTIVES:Mutations affecting the TMEM173 gene cause STING-associated vasculopathy with onset in infancy (SAVI). No standard immunosuppressive treatment approach is able to control disease progression in patients with SAVI. We studied the efficacy and safety of targeting type I IFN signaling with the Janus kinase inhibitor, ruxolitinib. METHODS:We used DNA sequencing to identify mutations in TMEM173 in patients with peripheral blood type I IFN signature. The JAK1/2 inhibitor ruxolitinib was administered on an off-label basis. RESULTS:We identified three patients with SAVI presenting with skin involvement and progressive severe interstitial lung disease. Indirect echocardiographic signs of pulmonary hypertension were present in one case. Following treatment with ruxolitinib, we observed improvements of respiratory function including increased forced vital capacity in two patients, with discontinuation of oxygen therapy and resolution of echocardiographic abnormalities in one case. Efficacy was persistent in one patient and only transitory in the other two patients. Clinical control of skin complications was obtained, and one patient discontinued steroid treatment. One patient, who presented with kidney involvement, showed resolution of hematuria. One patient experienced increased recurrence of severe viral respiratory infections. Monitoring of peripheral blood type I interferon signature during ruxolitinib treatment did not show a stable decrease. CONCLUSIONS:We conclude that targeting type I IFN receptor signaling may represent a promising therapeutic option for a subset of patients with SAVI syndrome and severe lung involvement. However, the occurrence of viral respiratory infection might represent an important cautionary note for the application of such form of treatment.
journal_name
J Clin Immunoljournal_title
Journal of clinical immunologyauthors
Volpi S,Insalaco A,Caorsi R,Santori E,Messia V,Sacco O,Terheggen-Lagro S,Cardinale F,Scarselli A,Pastorino C,Moneta G,Cangemi G,Passarelli C,Ricci M,Girosi D,Derchi M,Bocca P,Diociaiuti A,El Hachem M,Cancrini C,Todoi
10.1007/s10875-019-00645-0subject
Has Abstractpub_date
2019-07-01 00:00:00pages
476-485issue
5eissn
0271-9142issn
1573-2592pii
10.1007/s10875-019-00645-0journal_volume
39pub_type
杂志文章abstract::The present study analyzes the role of CD28-B7-mediated costimulation during in vitro human peripheral blood memory T cell activation by influenza A virus. Inhibition studies using the B7-binding fusion protein CTLA4Ig and antibodies against CD80 and CD86 demonstrate that CTLA4Ig and anti-CD86 inhibited influenza-spec...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1023/a:1010987426835
更新日期:2001-07-01 00:00:00
abstract::Light chain amyloidosis (AL) is a protein folding disorder with an underlying B cell neoplasia where the monoclonal immunoglobulin light chains (LCs) produced from insoluble amyloid fibrils. The deposition of these fibrillar aggregates in vital organs causes severe organ dysfunction over time and is associated with hi...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1023/B:JOCI.0000029113.68758.9f
更新日期:2004-07-01 00:00:00
abstract::The concentrations of the neuropeptides substance P, somatostatin, and calcitonin gene-related peptide in human nasal secretions were quantified by radioimmunoassays, concurrently with that of histamine, in the course of nasal challenge of allergic and control subjects with ryegrass antigen to examine contributions of...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00917898
更新日期:1988-03-01 00:00:00
abstract:OBJECTIVE:The aim of this study is to determine when during hematopoiesis Siglec-8 gets expressed, whether it is expressed on hematologic malignancies, and if there are other non-human species that express Siglec-8. METHODS:Siglec-8 mRNA and cell surface expression was monitored during in vitro maturation of human eos...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-011-9589-4
更新日期:2011-12-01 00:00:00
abstract:PURPOSE:Patients with primary immunodeficiency (PID) are at risk of serious complications. However, data on the incidence and causes of emergency hospital admissions are scarce. The primary objective of the present study was to describe emergency hospital admissions among patients with PID, with a view to identifying "...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-019-00658-9
更新日期:2019-10-01 00:00:00
abstract::Catecholamines have been suggested to be responsible for altered cellular immunity after stress. This study was performed to determine the effects of adrenaline and noradrenaline on lymphocyte subpopulations and NK cell functions. Subjects were given a subcutaneous injection of either NaCl, adrenaline (5 micrograms/kg...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00920243
更新日期:1993-09-01 00:00:00
abstract:INTRODUCTION:We used proteomic analyses to assess how drug abuse modulates immunologic responses to infections with the human immunodeficiency virus type 1 (HIV-1). METHODS:Two-dimensional difference gel electrophoresis was utilized to determine changes in the proteome of peripheral blood mononuclear cells (PBMC) isol...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-009-9309-5
更新日期:2009-09-01 00:00:00
abstract::Intravenous immunoglobulin (IVIg) has been used to treat autoimmune diseases and lymphoid malignancies with some therapeutic effect. In both these pathological conditions, there is an overproduction of BAFF (for "B-cell-activating factor of the TNF family"), and APRIL (for "a proliferation-inducing ligand"). The prese...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-007-9082-2
更新日期:2007-05-01 00:00:00
abstract:PURPOSE:The previous studies with Flebogamma(®) 5 % DIF intravenous immunoglobulin (IVIG) contained insufficient numbers of pediatric subjects to fully warrant a pediatric indication by the FDA. The objective of this study was to evaluate the efficacy, safety, and pharmacokinetics of Flebogamma® 5 % DIF for replacement...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,多中心研究
doi:10.1007/s10875-016-0303-4
更新日期:2016-08-01 00:00:00
abstract:BACKGROUND:Recently, two functional IL18 promoter variants, -607C>A (rs1946518) and -137G>C (rs187238), were associated with viral clearance in patients with hepatitis C. The present study focused on their relevance for treatment response. METHODS:Seven hundred fifty-seven chronically infected European patients and 79...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-009-9302-z
更新日期:2009-09-01 00:00:00
abstract:BACKGROUND:Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficiency disease, with an incidence of 4/1,000,000 live male births. In China, an estimated number of 35 babies with WAS are born each year, but likely many remain undiagnosed. OBJECTIVES:The objectives of study were to review the clinical and molecul...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-009-9285-9
更新日期:2009-07-01 00:00:00
abstract:PURPOSE:The interaction of Shiga toxin (Stx) and/or lipopolysaccharide (LPS) with monocytes (Mo) may be central to the pathogenesis of hemolytic uremic syndrome (HUS), providing the cytokines necessary to sensitize endothelial cells to Stx action. We have previously demonstrated phenotypical alterations in Mo from HUS ...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-011-9646-z
更新日期:2012-06-01 00:00:00
abstract:PURPOSE:To investigate whether there is an increased incidence of chronic autoimmune thyroiditis (CAT) in individuals living in the vicinity of industrial plants that manufacture petroleum byproducts in the state of São Paulo, Brazil. METHODS:Between 1989 and 2004, 6,306 patients of both sexes, from 5 to 78 years old ...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-012-9703-2
更新日期:2012-10-01 00:00:00
abstract::Oral tolerance is the immunologic mechanism by which the mucosal immune system maintains unresponsiveness to the myriad of antigens in the mucosal environment which might otherwise induce untoward immune responses. Recent studies have shown that it is mediated by several distinct, yet interacting mechanisms including ...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,评审
doi:10.1023/a:1023222003039
更新日期:1998-01-01 00:00:00
abstract::Review of the limited data currently available on the ratios of helper (OKT4+) to suppressor (OKT8+) T cells in autoimmune liver disease (primary biliary cirrhosis and chronic active lupoid hepatitis) and virally induced liver disease indicates that this OKT4+:OKT8+ ratio is elevated in autoimmune liver disease manife...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,评审
doi:
更新日期:1982-07-01 00:00:00
abstract::Two hundred twelve patients with enzyme immunoassay and Western blot confirmation of human immunodeficiency virus (HIV) infection were evaluated with anergy panel, lymphocyte cell surface phenotyping, lymphocyte transformation, and serum immunoglobulins. Mitogen responses were used to develop a lymphocyte transformati...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00916939
更新日期:1989-03-01 00:00:00
abstract::We have undertaken an immunofluorescent analysis of the immunoglobulin heavy and light chains expressed by pre-B cells from normal human fetal and adult bone marrow using purified mouse monoclonal and goat antibodies to human immunoglobulin isotypes. Our results indicate that (i) the great majority of normal pre-B cel...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00915065
更新日期:1982-10-01 00:00:00
abstract::Glucocorticoids (GC) represent the main treatment for pemphigus; however, some patients show GC resistance. GC sensitivity was evaluated in 19 pemphigus patients and 41 controls by the number of binding sites [B(max) (fmol/mg protein)] and the affinity of GC receptor [Kd (nM)] to dexamethasone (DEX) as well as by the ...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-012-9679-y
更新日期:2012-08-01 00:00:00
abstract:BACKGROUND:The peroxisome proliferator-activated receptors (PPARs) have been implicated in immune regulation. We determined the transcriptional expression of the three isoforms, PPARalpha, PPARgamma1, and PPARgamma2 in the peritoneal macrophages, CD4- and CD8-positive lymphocytes in non-obese diabetic (NOD) mice at 5 a...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-009-9300-1
更新日期:2009-09-01 00:00:00
abstract::Chronic enteroviral meningoencephalitis is a well-recognized complication in patients with X-linked agammaglobulinemia (XLA). The majority of published cases refers to its occurrence in patients on no replacement therapy or on only intramuscular immunoglobulin. The advent of intravenous immunoglobulin (IVIg) in the ea...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,评审
doi:10.1007/BF00918150
更新日期:1992-07-01 00:00:00
abstract:PURPOSE:T-helper (Th) cells abnormalities are considered to be associated with the pathogenesis of Systemic lupus erythematosus (SLE). Recently, The Th22 cells have been identified and implicated in the pathogenesis of autoimmune diseases such as Rheumatoid arthritis (RA), although therir role in Systemic lupus erythem...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-013-9878-1
更新日期:2013-05-01 00:00:00
abstract::IgD production by short-term human peripheral blood mononuclear cell (PBM) cultures was studied to establish the in vitro correlates of low serum IgD expression. Cells of persons with less than 3 micrograms/ml IgD in the serum, referred to as the low-serum IgD phenotype (LISP), were analyzed. Advantage was taken of re...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/BF00916005
更新日期:1987-03-01 00:00:00
abstract:INTRODUCTION:Experimental allergic encephalomyelitis (EAE) is a T cell-mediated autoimmune disease model for multiple sclerosis (MS). We have shown earlier that 15-deoxy-Delta(12,14)-prostaglandin J(2) (15d-PGJ(2)) and curcumin ameliorate EAE by modulating inflammatory signaling pathways in T lymphocytes. Toll-like rec...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-008-9202-7
更新日期:2008-09-01 00:00:00
abstract::This special article deals with the role of processing enzymes in the generation of bioactive cytokines, particularly IL-1 beta and the novel cytokine IL-18, which was formerly called IFN gamma-inducing factor (IGIF). The "classical" pathways of cytokine processing are described, as well as the importance of alternati...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,评审
doi:10.1023/a:1020506300324
更新日期:1999-01-01 00:00:00
abstract:PURPOSE:Survival of the Leishmania parasite within monocytes hinges on its ability to effectively nullify their microbicidal effector mechanisms. Accordingly, this study aimed to delineate this biological niche in patients with visceral leishmaniasis (VL). METHODS:In monocytes, the redox status, antigen presenting cap...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-014-0115-3
更新日期:2015-01-01 00:00:00
abstract::Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification into ten tables. This phenotypic classification is user-friendly and...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-020-00758-x
更新日期:2020-01-01 00:00:00
abstract::The original version of this article unfortunately contained mistake in the following sentence in the Abstract. ...
journal_title:Journal of clinical immunology
pub_type: 已发布勘误
doi:10.1007/s10875-019-00653-0
更新日期:2019-07-01 00:00:00
abstract::Aging represents a complex remodeling in which both innate and adaptive immunities deteriorate. Age-related changes in humoral immunity are responsible for the reduced vaccine responses observed in elderly individuals. Although T cell alterations play a significant role in age-related humoral immune changes, alteratio...
journal_title:Journal of clinical immunology
pub_type: 杂志文章,评审
doi:10.1007/s10875-010-9501-7
更新日期:2011-06-01 00:00:00
abstract:PURPOSE:We carried out a retrospective analysis of 27 patients with Adenosine Deaminase (ADA) deficiency diagnosed in a single center from 1997 to the 2013, for evaluating whether data regarding types of disease-inducing mutations, biochemical and immunological features as well as clinical outcomes of patients treated ...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1007/s10875-015-0191-z
更新日期:2015-10-01 00:00:00
abstract::Rapidly progressive glomerulonephritis (RPGN) is characterized by rapid and progressive loss of renal function and the presence of crescentic glomerulonephritis (CGN). Early diagnosis and appropriate treatment is mandatory to prevent death and/or renal failure. We have evaluated an ANCA-GBM dot-blot diagnostic test in...
journal_title:Journal of clinical immunology
pub_type: 杂志文章
doi:10.1023/B:JOCI.0000029115.79266.ae
更新日期:2004-07-01 00:00:00