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Search on : Autoimmune and Lymphoproliferative and Syndrome [Words]
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[PMID]: 29345341
[Au] Autor:Ben-Mustapha I; Agrebi N; Barbouche MR
[Ad] Address:Department of Immunology and LR11IPT02, Institut Pasteur de Tunis, 1002, Tunis-Belvédère, Tunisia.
[Ti] Title:Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients.
[So] Source:J Leukoc Biol;103(3):501-508, 2018 Mar.
[Is] ISSN:1938-3673
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Autoimmune lymphoproliferative syndrome (ALPS) is a primary immunodeficiency disease due to impaired Fas-Fas ligand apoptotic pathway. It is characterized by chronic nonmalignant, noninfectious lymphadenopathy and/or splenomegaly associated with autoimmune manifestations primarily directed against blood cells. Herein, we review the heterogeneous ALPS molecular bases and discuss recent findings revealed by the study of consanguineous patients. Indeed, this peculiar genetic background favored the identification of a novel form of AR ALPS-FAS associated with normal or residual protein expression, expanding the spectrum of ALPS types. In addition, rare mutational mechanisms underlying the splicing defects of FAS exon 6 have been identified in AR ALPS-FAS with lack of protein expression. These findings will help decipher critical regions required for the tight regulation of FAS exon 6 splicing. We also discuss the genotype-phenotype correlation and disease severity in AR ALPS-FAS. Altogether, the study of ALPS molecular bases in endogamous populations helps to better classify the disease subgroups and to unravel the Fas pathway functioning.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1801
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:In-Data-Review
[do] DOI:10.1002/JLB.5MR0817-332R

  2 / 1510 MEDLINE  
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[PMID]: 29480551
[Au] Autor:Nocerino A; Valencic E; Loganes C; Pelos G; Tommasini A
[Ad] Address:Department of Pediatrics, ASIUD Udine University Hospital, Udine, Italy.
[Ti] Title:Low-dose sirolimus in two cousins with autoimmune lymphoproliferative syndrome-associated infection.
[So] Source:Pediatr Int;, 2018 Feb 26.
[Is] ISSN:1442-200X
[Cp] Country of publication:Australia
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180226
[Lr] Last revision date:180226
[St] Status:Publisher
[do] DOI:10.1111/ped.13494

  3 / 1510 MEDLINE  
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[PMID]: 29330115
[Au] Autor:Besnard C; Levy E; Aladjidi N; Stolzenberg MC; Magerus-Chatinet A; Alibeu O; Nitschke P; Blanche S; Hermine O; Jeziorski E; Landman-Parker J; Leverger G; Mahlaoui N; Michel G; Pellier I; Suarez F; Thuret I; de Saint-Basile G; Picard C; Fischer A; Neven B; Rieux-Laucat F; Quartier P; Members of the French reference center for pediatric autoimmune cytopenias (CEREVANCE)
[Ad] Address:INSERM UMR 1163, Laboratory of Immunogenetics of pediatric autoimmune diseases, Paris, France; Pediatric immuno-hematology and rhumatology unit, RAISE reference centre for pediatric inflammatory rheumatic diseases and systemic autoimmune diseases, Necker-Enfants Malades University Hospital, Assistan
[Ti] Title:Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.
[So] Source:Clin Immunol;188:52-57, 2018 Mar.
[Is] ISSN:1521-7035
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Evans syndrome (ES) is defined by the combination of autoimmune hemolytic anemia and immune thrombocytopenia. Clinical presentation includes manifestations of immune dysregulation, found in primary immune deficiencies, autoimmune lymphoproliferative syndrome with FAS (ALPS-FAS), Cytotoxic T Lymphocyte Antigen-4 (CTLA-4) and Lipopolysaccharide-Responsive vesicle trafficking Beige-like and Anchor protein (LRBA) defects. We report the clinical history and genetic results of 18 children with ES after excluding ALPS-FAS. Thirteen had organomegaly, five lymphocytic infiltration of non-lymphoid organs, nine hypogammaglobulinemia and fifteen anomalies in lymphocyte phenotyping. Seven patients had genetic defects: three CTLA4 mutations (c.151C>T; c.109+1092_568-512del; c.110-2A>G) identified by Sanger sequencing and four revealed by Next Generation Sequencing: LRBA (c.2450+1C>T), STAT3 gain-of-function (c.2147C>T; c.2144C>T) and KRAS (c.37G>T). No feature emerged to distinguish patients with or without genetic diagnosis. Our data on pediatric-onset ES should prompt physicians to perform extensive screening for mutations in the growing pool of genes involved in primary immune deficiencies with autoimmunity.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180226
[Lr] Last revision date:180226
[St] Status:In-Data-Review

  4 / 1510 MEDLINE  
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[PMID]: 29271561
[Au] Autor:Alsultan A; Basher E; Alqanatish J; Mohammed R; Alfadhel M
[Ad] Address:Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
[Ti] Title:Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis.
[So] Source:Pediatr Blood Cancer;65(4), 2018 Apr.
[Is] ISSN:1545-5017
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Adenosine deaminase-2 (ADA2) deficiency (DADA2) is associated with early onset polyarteritis nodosa and vasculopathy. Classic presentation includes livedo reticularis, vasculitis, and stroke. However, the phenotype and disease severity are variable. We present a 5-year-old female who presented with features that mimicked autoimmune lymphoproliferative syndrome (ALPS) in the absence of classic features of DADA2. Exome sequencing identified a novel homozygous splicing variant in ADA2 c.882-2A > G. Patient responded to anti- tumor necrosis factor medication and is in complete remission. Hematologists should be aware of various hematological presentations of DADA2, including ALPS-like disorder, that might lack vasculitis and livedo reticularis to prevent delay in initiating optimal therapy.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180221
[Lr] Last revision date:180221
[St] Status:In-Data-Review
[do] DOI:10.1002/pbc.26912

  5 / 1510 MEDLINE  
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[PMID]: 28462523
[Au] Autor:Zheng L; Li J; Lenardo M
[Ad] Address:Laboratory of Immunology and Clinical Genomics Program, Molecular Development of the Immune System Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
[Ti] Title:Restimulation-induced cell death: new medical and research perspectives.
[So] Source:Immunol Rev;277(1):44-60, 2017 05.
[Is] ISSN:1600-065X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:In the periphery, homeostasis of the immune system depends on the equilibrium of expanding and contracting T lymphocytes during immune response. An important mechanism of lymphocyte contraction is clonal depletion of activated T cells by cytokine withdrawal induced death (CWID) and TCR restimulation induced cell death (RICD). Deficiencies in signaling components for CWID and RICD leads to autoimmunune lymphoproliferative disorders in mouse and human. The most important feature of CWID and RICD is clonal specificity, which lends great appeal as a strategy for targeted tolerance induction and treatment of autoimmune diseases, allergic disorders, and graft rejection by depleting undesired disease-causing T cells while keeping the overall host immunity intact.
[Mh] MeSH terms primary: Autoimmune Diseases/immunology
Graft Rejection/immunology
Hypersensitivity/immunology
Lymphoproliferative Disorders/immunology
T-Lymphocytes/immunology
[Mh] MeSH terms secundary: Animals
Cell Death
Clonal Deletion
Clonal Selection, Antigen-Mediated
Cytokines/metabolism
Homeostasis
Humans
Immunization
Mice
Peripheral Tolerance
[Pt] Publication type:JOURNAL ARTICLE; REVIEW; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, N.I.H., INTRAMURAL
[Nm] Name of substance:0 (Cytokines)
[Em] Entry month:1802
[Cu] Class update date: 180220
[Lr] Last revision date:180220
[Js] Journal subset:IM
[Da] Date of entry for processing:170503
[St] Status:MEDLINE
[do] DOI:10.1111/imr.12535

  6 / 1510 MEDLINE  
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[PMID]: 29208331
[Au] Autor:Gru AA; O'Malley DP
[Ad] Address:Departments of Pathology & Dermatology, University of Virginia, Charlottesville, VA, USA. Electronic address: AAG4B@hscmail.mcc.virginia.edu.
[Ti] Title:Autoimmune and medication-induced lymphadenopathies.
[So] Source:Semin Diagn Pathol;35(1):34-43, 2018 Jan.
[Is] ISSN:0740-2570
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:This article will provide a discussion of some common autoimmune disorders that could affect the lymph nodes and potentially mimic B and T-cell lymphomas. Some of these disorders are more characteristic of individuals in the pediatric age group (autoimmune lymphoproliferative syndrome, Kawasaki disease), while others present in older individuals (rheumatoid arthritis, lupus erythematosus, sarcoidosis). A common finding that groups all of these disorders together is the overall relative preservation of the architecture, a feature that can be particularly helpful to distinguish them from many B and T-cell lymphomas. Another area of interest, that will be discussed in this review, is the pathologic manifestations that can be present in lymph nodes secondary to medications. Such alterations range from 'reactive' forms of follicular, interfollicular or paracortical hyperplasia, to specific B and T-cell lymphoproliferative disorders (particularly documented in association with methotrexate and TNF-inhibitors).
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1712
[Cu] Class update date: 180207
[Lr] Last revision date:180207
[St] Status:In-Data-Review

  7 / 1510 MEDLINE  
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[PMID]: 29187589
[Au] Autor:Majri SS; Fritz JM; Villarino AV; Zheng L; Kanellopoulou C; Chaigne-Delalande B; Grönholm J; Niemela JE; Afzali B; Biancalana M; Pittaluga S; Sun A; Cohen JL; Holland SM; O'Shea JJ; Uzel G; Lenardo MJ
[Ad] Address:Molecular Development of the Immune System Section, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.
[Ti] Title:STAT5B: A Differential Regulator of the Life and Death of CD4 Effector Memory T Cells.
[So] Source:J Immunol;200(1):110-118, 2018 01 01.
[Is] ISSN:1550-6606
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Understanding the control of Ag restimulation-induced T cell death (RICD), especially in cancer immunotherapy, where highly proliferating T cells will encounter potentially large amounts of tumor Ags, is important now more than ever. It has been known that growth cytokines make T cells susceptible to RICD, but the precise molecular mediators that govern this in T cell subsets is unknown until now. STAT proteins are a family of transcription factors that regulate gene expression programs underlying key immunological processes. In particular, STAT5 is known to favor the generation and survival of memory T cells. In this study, we report an unexpected role for STAT5 signaling in the death of effector memory T (TEM) cells in mice and humans. TEM cell death was prevented with neutralizing anti-IL-2 Ab or STAT5/JAK3 inhibitors, indicating that STAT5 signaling drives RICD in TEM cells. Moreover, we identified a unique patient with a heterozygous missense mutation in the coiled-coil domain of STAT5B that presented with autoimmune lymphoproliferative syndrome-like features. Similar to mice, this patient exhibited increased CD4 TEM cells in the peripheral blood. The mutant STAT5B protein dominantly interfered with STAT5-driven transcriptional activity, leading to global downregulation of STAT5-regulated genes in patient T cells upon IL-2 stimulation. Notably, CD4 TEM cells from the patient were strikingly resistant to cell death by in vitro TCR restimulation, a finding that was recapitulated in mice. Hence, STAT5B is a crucial regulator of RICD in memory T cells in mice and humans.
[Mh] MeSH terms primary: Apoptosis
Autoimmune Lymphoproliferative Syndrome/immunology
CD4-Positive T-Lymphocytes/immunology
Cell Survival
STAT5 Transcription Factor/metabolism
[Mh] MeSH terms secundary: Animals
Antibodies, Neutralizing/metabolism
Autoimmune Lymphoproliferative Syndrome/genetics
Cells, Cultured
Female
Humans
Immunologic Memory
Interleukin-2/immunology
Lymphocyte Activation
Male
Mice
Mice, Inbred C57BL
Mice, Knockout
Mutation, Missense/genetics
STAT5 Transcription Factor/genetics
Signal Transduction
Transcription, Genetic
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., INTRAMURAL; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Name of substance:0 (Antibodies, Neutralizing); 0 (Interleukin-2); 0 (STAT5 Transcription Factor)
[Em] Entry month:1801
[Cu] Class update date: 180131
[Lr] Last revision date:180131
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:171201
[St] Status:MEDLINE
[do] DOI:10.4049/jimmunol.1701133

  8 / 1510 MEDLINE  
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[PMID]: 29364334
[Au] Autor:Flores-Chávez A; Carrion JA; Forns X; Ramos-Casals M
[Ad] Address:Laboratory of Autoimmune Diseases Josep Font, IDIBAPS-CELLEX, Department of Autoimmune Diseases, ICMiD, Hospital Clínic, Barcelona, Spain.
[Ti] Title:Extrahepatic manifestations associated with Chronic Hepatitis C Virus Infection.
[So] Source:Rev Esp Sanid Penit;19(3):87-97, 2017 Dec.
[Is] ISSN:2013-6463
[Cp] Country of publication:Spain
[La] Language:eng
[Ab] Abstract:Chronic hepatitis C virus (HCV) infection has been associated with both organ-specific and systemic autoimmune diseases, with cryoglobulinemia being the most frequent associated disease. Experimental, virologic, and clinical evidence have demon-strated a close association between HCV infection and some systemic autoimmune diseases, especially Sjögren's syndrome, but also rheumatoid arthritis and lupus. A higher prevalence of hematological processes has also been described in patients with HCV infection, including cytopenias and lymphoproliferative disorders (B-cell lymphoma). In addition, patients with chronic HCV infection have a higher frequency of other extrahepatic manifestations including endocrine, metabolic and cardiovascular disorders that may worse the prognosis of patients, along with neuropsychiatric manifestations and general symptoms that have a significant influence on the quality of life of the patient. Direct-acting antiviral therapies (DAAs) that have recently begun to be used are providing the opportunity to effectively cure chronic HCV infection and reduce the burden of both hepatic and extrahepatic complications.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180124
[Lr] Last revision date:180124
[St] Status:In-Process

  9 / 1510 MEDLINE  
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[PMID]: 29342998
[Au] Autor:He TY; Xia Y; Li CG; Li CR; Qi ZX; Yang J
[Ad] Address:Department of Rheumatology and Immunology, Shenzhen Children's Hospital, Shenzhen 518038, China.
[Ti] Title:[X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia: report of a family and literature review].
[So] Source:Zhonghua Er Ke Za Zhi;56(1):48-52, 2018 Jan 02.
[Is] ISSN:0578-1310
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:To investigate the clinical features and genetic characteristics of cases with X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia (XMEN). Characteristics of clinical material, immunological data and gene mutation of two cases with XMEN in the same family in China were retrospectively analyzed. The related reports literature were searched by using search terms'MAGT1 gene'or'XMEN'. The proband, a 2-year-eight-month old boy, was admitted due to 'Urine with deepened color for two days and yellow stained skin for one day'. He had suffered from recurrent upper respiratory tract infection and sinusitis previously. Hemoglobin level was 38 g/L. The absolute count of reticulocytes was 223.2×10(9)/L. Urobilinogen level was 38 µmol/L (3-16 µmol/L). Coomb's test was positive. Both total (77.2 µmol/L) and indirect bilirubin (66 µmol/L) levels were elevated. There was an inverted CD4(+)/CD8(+)T cell ratio (0.89). The gene sequencing results showed MAGT1 gene c.472delG, p.D158Mfs*6 mutation. His 1-year-6-month old brother, was also identified to have MAGT1 gene c.472delG, p.D158Mfs*6 mutation.The younger brother mainly suffered from recurrent upper respiratory tract infection, accompanied by an inverted CD4(+)/CD8(+)T cell ratio (0.45), an elevated ratio and number of total B cells (45.7%). A total of 7 reports were retrieved including 11 male cases caused by MAGT1 gene mutation. These 11 cases were characterized by EBV viremia (11 cases), recurrent upper respiratory tract infection, otitis media or sinusitis (10 cases), secondary neoplasia diseases (8 cases), reduction of CD4(+)/CD8(+) T cell ratio (7 cases),and autoimmune thrombocytopenia or hemolytic anemia (2 cases). XMEN often manifests as male onset, recurrent upper respiratory tract infection, otitis media or sinusitis, EBV viremia, lymphoproliferative disease or lymphoma, autoimmune diseases and reduction of CD4(+)/CD8 (+)T cell ratio. NKG2D expression in NK cells is significantly reduced, and gene sequencing analysis shows a pathogenic mutation in MAGT1 gene.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180118
[Lr] Last revision date:180118
[St] Status:In-Process
[do] DOI:10.3760/cma.j.issn.0578-1310.2018.01.013

  10 / 1510 MEDLINE  
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[PMID]: 29250557
[Au] Autor:Xu X; Huang J; Zhao M; Chen H; Mo J; Zhou X; Su Q; Yu B; Huang Z
[Ad] Address:Institute of Human Virology, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, China.
[Ti] Title:Stabilized -Catenin Ameliorates ALPS-Like Symptoms of B6/ Mice.
[So] Source:J Immunol Res;2017:3469108, 2017.
[Is] ISSN:2314-7156
[Cp] Country of publication:Egypt
[La] Language:eng
[Ab] Abstract:Autoimmune lymphoproliferative syndrome (ALPS) is an incurable disease mainly caused by the defect of Fas-mediated apoptosis and characterized by nonmalignant autoimmune lymphoproliferation. Stabilized -catenin could not only potentiate Fas-mediated T cell apoptosis via upregulating the expression of Fas on activated T cells, but also potentiate T cell apoptosis via intrinsic apoptotic pathway. In the present study, we introduced -cat into / mice and aimed to explore the potential role of stabilized -catenin ( -cat ) in the development of ALPS-like phenotypes of / mice. We found that the total splenocyte cells and some compositions were slightly downregulated in -cat / mice, especially the CD4 and CD8 T cells were significantly reduced. Meanwhile, stabilized -catenin obviously decreased the numbers of spleen TCR CD4 CD8 T (DNT) cells, and the levels of some serum proinflammatory factors also were lowered in -cat / mice. Beyond that, stabilized -catenin slightly lowered the levels of the serum autoantibodies and the scores of kidney histopathology of -cat / mice compared with / mice. Our study suggested that stabilized -catenin ameliorated some ALPS-like symptoms of / mice by potentiating Fas-independent signal-mediated T cell apoptosis, which might uncover a potential novel therapeutic direction for ALPS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171220
[Lr] Last revision date:171220
[St] Status:In-Process
[do] DOI:10.1155/2017/3469108


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