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Autoimmune lymphoproliferative syndrome

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https://www.readbyqxmd.com/read/29568782/proteinuria-hypoalbuminemia-and-chronic-lymphocytic-leukemia-an-unusual-trio
#1
William Wung, Shubha Ananthakrishnan, Brian A Jonas
Chronic lymphocytic leukemia (CLL) is a chronic, progressive lymphoproliferative disorder characterized by a monoclonal population of functionally incompetent lymphocytes. Renal involvement is rare and poorly described. A 57-year-old male with no prior medical history was diagnosed with CLL and followed with a watch and wait approach. He was referred to our institution several months later due to concern for Richter's transformation to diffuse large B-cell lymphoma. A positron emission tomography/computed tomography scan showed no evidence of diffuse large B-cell lymphoma; however, the patient was noted to have hypoalbuminemia, nephrotic range proteinuria, an acute left renal vein thrombus, and a right pulmonary embolus...
January 2018: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/29480551/low-dose-sirolimus-in-two-cousins-with-autoimmune-lymphoproliferative-syndrome-associated-infection
#2
Agostino Nocerino, Erica Valencic, Claudia Loganes, Giorgio Pelos, Alberto Tommasini
No abstract text is available yet for this article.
February 26, 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29364334/extrahepatic-manifestations-associated-with-chronic-hepatitis-c-virus-infection
#3
A Flores-Chávez, J A Carrion, X Forns, M Ramos-Casals
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)...
December 2017: Revista Española de Sanidad Penitenciaria
https://www.readbyqxmd.com/read/29345341/novel-insights-into-fas-defects-underlying-autoimmune-lymphoproliferative-syndrome-revealed-by-studies-in-consanguineous-patients
#4
REVIEW
Imen Ben-Mustapha, Nourhen Agrebi, Mohamed-Ridha Barbouche
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...
December 27, 2017: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/29330115/pediatric-onset-evans-syndrome-heterogeneous-presentation-and-high-frequency-of-monogenic-disorders-including-lrba-and-ctla4-mutations
#5
Caroline Besnard, Eva Levy, Nathalie Aladjidi, Marie-Claude Stolzenberg, Aude Magerus-Chatinet, Olivier Alibeu, Patrick Nitschke, Stéphane Blanche, Olivier Hermine, Eric Jeziorski, Judith Landman-Parker, Guy Leverger, Nizar Mahlaoui, Gérard Michel, Isabelle Pellier, Felipe Suarez, Isabelle Thuret, Geneviève de Saint-Basile, Capucine Picard, Alain Fischer, Bénédicte Neven, Frédéric Rieux-Laucat, Pierre Quartier
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...
March 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29296904/soluble-interleukin-2-receptor-is-a-sensitive-diagnostic-test-in-adult-hlh
#6
Anna Hayden, Molly Lin, Sujin Park, Morris Pudek, Marion Schneider, Michael B Jordan, Andre Mattman, Luke Y C Chen
Serum soluble interleukin-2 receptor (sIL-2r) is an important disease marker in hemophagocytic lymphohistiocytosis (HLH), but there are no published data on its diagnostic value in adults. We conducted a single-center retrospective study of 78 consecutive adults who had sIL-2r measured for suspected HLH. Serum sIL-2r levels were measured by enzyme-linked immunosorbent assay (adult reference range, 241-846 U/mL). There were 38 patients with HLH and 40 with a non-HLH diagnosis (such as sepsis, liver disease, histiocyte disorders, autoimmune disease, leukemia, or lymphoma)...
December 12, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296752/lymphadenopathy-driven-by-tcr-v-%C3%AE-8v-%C3%AE-1-t-cell-expansion-in-fas-related-autoimmune-lymphoproliferative-syndrome
#7
Stefano Vavassori, Jacob D Galson, Johannes Trück, Anke van den Berg, Rienk Y J Tamminga, Aude Magerus-Chatinet, Olivier Pellé, Ulrike Camenisch Gross, Ewerton Marques Maggio, Seraina Prader, Lennart Opitz, Ursina Nüesch, Andrea Mauracher, Benjamin Volkmer, Oliver Speer, Luzia Suda, Benno Röthlisberger, Dieter Robert Zimmermann, Rouven Müller, Arjan Diepstra, Lydia Visser, Eugenia Haralambieva, Bénédicte Neven, Frédéric Rieux-Laucat, Jana Pachlopnik Schmid
FAS-dependent apoptosis in Vδ 1 T cells makes the latter possible culprits for the lymphadenopathy observed in patients with FAS mutations.Rapamycin and methylprednisolone resistance should prompt clinicians to look for Vδ 1 T cell proliferation in ALPS-FAS patients.
June 27, 2017: Blood Advances
https://www.readbyqxmd.com/read/29250557/stabilized-%C3%AE-catenin-ameliorates-alps-like-symptoms-of-b6-lpr-mice
#8
Xiaoxie Xu, Jun Huang, Mei Zhao, Huanpeng Chen, Jinhua Mo, Xiaoqing Zhou, Qiao Su, Bolan Yu, Zhaofeng Huang
Autoimmune lymphoproliferative syndrome (ALPS) is an incurable disease mainly caused by the defect of Fas-mediated apoptosis and characterized by nonmalignant autoimmune lymphoproliferation. Stabilized β -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 β -catTg into lpr / lpr mice and aimed to explore the potential role of stabilized β -catenin ( β -catTg ) in the development of ALPS-like phenotypes of lpr / lpr mice...
2017: Journal of Immunology Research
https://www.readbyqxmd.com/read/29249107/-common-immunodeficiency-variable-in-adults
#9
Patricia María O'Farrill-Romanillos, Diana Andrea Herrera-Sánchez, Cecilia Hernández-Fernández, Eunice Giselle López-Rocha
Primary immunodeficiencies (PIDs) are low-incidence diseases caused by defects in genes involved in the development, maintenance, and regulation of the immune system. Common variable immunodeficiency (CVID) is the most common symptomatic immunodeficiency of adulthood. It has an approximate prevalence of 1 in 25 000-50 000 in the general population, with a delay in diagnosis between 6-7 years. The clinical manifestations of CVID constitute six main categories: infections, pulmonary complications, granulomatous or polyclonal lymphocytic disease, autoimmunity, gastrointestinal diseases and malignancy Most patients must have at least one of the following clinical manifestations (infection, autoimmunity, lymphoproliferation)...
October 2017: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/29208331/autoimmune-and-medication-induced-lymphadenopathies
#10
REVIEW
Alejandro A Gru, Dennis P O'Malley
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...
January 2018: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/29187589/stat5b-a-differential-regulator-of-the-life-and-death-of-cd4-effector-memory-t-cells
#11
Sonia S Majri, Jill M Fritz, Alejandro V Villarino, Lixin Zheng, Chrysi Kanellopoulou, Benjamin Chaigne-Delalande, Juha Grönholm, Julie E Niemela, Behdad Afzali, Matthew Biancalana, Stefania Pittaluga, Ashleigh Sun, José L Cohen, Steven M Holland, John J O'Shea, Gulbu Uzel, Michael J Lenardo
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...
January 1, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29164157/inflammatory-breast-cancer-and-warm-antibody-autoimmune-hemolytic-anemia-a-rare-paraneoplastic-syndrome
#12
Nene Ugoeke, Chidinma Onweni, Jennifer Treece, Vandana Pai, Sowminya Arikapudi, Evan Kulbacki, Kailash Bajaj
Autoimmune hemolytic anemia (AIHA) is a disease process that involves the destruction of red blood cells mediated by the humoral immune system. It can be characterized as a cold agglutinin syndrome, paroxysmal cold hemoglobinuria, and warm, mixed type, and drug-induced AIHA. Although a well-established relationship exists between the presence of AIHA and lymphoproliferative malignancy, AIHA rarely presents in association with solid malignancies. An analysis of the limited number of published cases of AIHA in association with solid malignancies performed showed that AIHA may present before the diagnosis of a solid malignancy, concurrently with the presence of a solid malignancy, or even on resolution of a solid malignancy...
October 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/29155103/rasgrp1-mutation-in-autoimmune-lymphoproliferative-syndrome-like-disease
#13
Huawei Mao, Wanling Yang, Sylvain Latour, Jing Yang, Sarah Winter, Jian Zheng, Ke Ni, Minmin Lv, Chenjing Liu, Hongmei Huang, Koon-Wing Chan, Pamela Pui-Wah Lee, Wenwei Tu, Alain Fischer, Yu-Lung Lau
BACKGROUND: Autoimmune lymphoproliferative syndrome (ALPS) is a genetic disorder of lymphocyte homeostasis due to impaired apoptosis. It was initially regarded as a very rare disease, but recent studies show that it may be more common than previously thought. Defects in a couple of genes have been identified in a proportion of patients with ALPS, but around one-third of such patients remain undefined genetically. OBJECTIVE: We describe 2 siblings presenting with ALPS-like disease...
November 15, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29123652/autoimmune-lymphoproliferative-syndrome-more-than-a-fascinating-disease
#14
REVIEW
Karen Bride, David Teachey
Autoimmune lymphoproliferative syndrome (ALPS) is an inherited syndrome characterized by abnormal lymphocyte survival caused by failure of apoptotic mechanisms to maintain lymphocyte homeostasis. This failure leads to the clinical manifestations of non-infectious and non-malignant lymphadenopathy, splenomegaly, and autoimmune pathology, most commonly, autoimmune cytopenias. Since ALPS was first characterized in the early 1990s, insights in disease biology have improved both diagnosis and management of this syndrome...
2017: F1000Research
https://www.readbyqxmd.com/read/29074164/defective-regulation-of-l1-endogenous-retroelements-in-primary-sjogren-s-syndrome-and-systemic-lupus-erythematosus-role-of-methylating-enzymes
#15
Clio P Mavragani, Adrianos Nezos, Irina Sagalovskiy, Surya Seshan, Kyriakos A Kirou, Mary K Crow
OBJECTIVE: To investigate whether altered DNA methylation contributes to the inappropriate expression of LINE-1 (L1) retroelements in primary Sjogren's syndrome (SS) and systemic lupus erythematosus (SLE). METHODS: Minor salivary glands (MSG) were obtained from 42 patients with primary SS [23 without adverse predictors for lymphoma development (SS-low risk), 7 SS-high risk and 12 complicated by B-cell lymphoma (SS-lymphoma)] and 17 sicca controls (SC). Additionally, kidney biopsy specimens and PBMCs were obtained from 23 and 73 lupus patients, respectively...
March 2018: Journal of Autoimmunity
https://www.readbyqxmd.com/read/29073495/what-s-up-in-the-alps
#16
REVIEW
Frédéric Rieux-Laucat
The autoimmune lymphoproliferative syndrome (ALPS) is a non-malignant and non-infectious uncontrolled proliferation of lymphocytes accompanied by autoimmune cytopenia. This clinical entity was recognized in the mid 60s and its genetic etiology was described in 1995 by the discovery of the FAS gene mutations. This was the first description of a monogenic cause of autoimmunity but its non-Mendelian expression remained elusive until the description of somatic and germline mutations in ALPS patients. The related apoptosis defect accounts for the accumulation of autoreactive lymphocytes as well as for specific clinical and biological features that distinguish the ALPS-FAS from other monogenic causes of ALPS such as somatic mutations of RAS or the recently described CTLA-4 insufficiency...
December 2017: Current Opinion in Immunology
https://www.readbyqxmd.com/read/29043872/a-rare-case-of-polyglandular-autoimmune-syndrome-type-iiic-with-primary-antibody-failure
#17
Adina Elena Stanciu, Florentina Sava, Gergely Toldi
Primary antibody deficiency syndromes are a rare group of disorders present at any age, with complex polygenic disorders. We report the forth case of polyglandular autoimmune syndrome (PAS) type IIIc worldwide with complex clinical features and no family history of endocrine disorders or primary immunodeficiencies. Our patient, a 44-year-old Caucasian female was diagnosed with PAS type IIIc due to the presence of autoimmune thyroiditis, autoimmune alopecia diffusa and primary ovarian insufficiency, associated with lymphoproliferative disease and primary antibody failure...
October 18, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29032605/non-apoptotic-functions-of-fas-cd95-in-the-immune-response
#18
REVIEW
Jean-Philippe Guégan, Patrick Legembre
CD95 (also known as Fas) is a member of the tumor necrosis factor receptor (TNFR) superfamily. Its cognate ligand, CD95L, is implicated in immune homeostasis and immune surveillance. Mutations in this receptor are associated with a loss of apoptotic signaling and have been detected in an autoimmune disorder called autoimmune lymphoproliferative syndrome (ALPS) type Ia, which shares some clinical features with systemic lupus erythematosus (SLE). In addition, deletions and mutations of CD95 have been described in many cancers, which led researchers to initially classify this receptor as a tumor suppressor...
October 15, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28991130/autoimmune-lymphoproliferative-syndrome-masquerading-as-posttransplant-lymphoproliferative-disorder
#19
Sarah M Jeffreys, Rebecca A Levy, Shelley E Crary
We present a case of a 2-year-old female presenting with diffuse lymphadenopathy 2 years following orthotopic heart transplant. Initially, she was diagnosed with posttransplant lymphoproliferative disease based on clinical presentation and pathology and she was treated accordingly. Because of persistent lymphadenopathy following the completion of chemotherapy and new onset of autoimmune cytopenias, repeat flow of the lymph node showed an elevated double negative T-cell population prompting evaluation for autoimmune lymphoproliferative syndrome (ALPS)...
October 4, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28960754/genetic-heterogeneity-of-uncharacterized-childhood-autoimmune-diseases-with-lymphoproliferation
#20
Masatoshi Takagi, Akihiro Hoshino, Kenichi Yoshida, Hiroo Ueno, Kohsuke Imai, Jinhua Piao, Hirokazu Kanegane, Motoi Yamashita, Tsubasa Okano, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Yasuhide Hayashi, Seiji Kojima, Tomohiro Morio
Autoimmune diseases in children are rare and can be difficult to diagnose.  Single causative genes have been identified for some pediatric autoimmune diseases. Such orphan diseases may not be diagnosed properly due to the variability of patients' phenotypes. Guidelines for the diagnostic process need to be developed. Fifteen patients with uncharacterized childhood autoimmune diseases with lymphoproliferation that had negative testing for autoimmune lymphoproliferative syndrome were subjected to whole-exome sequencing to identify genes associated with these conditions...
February 2018: Pediatric Blood & Cancer
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