keyword
MENU ▼
Read by QxMD icon Read
search

Autoimmune lymphoproliferative syndrome

keyword
https://www.readbyqxmd.com/read/29911256/the-autoimmune-lymphoproliferative-syndrome-with-defective-fas-or-fas-ligand-functions
#1
REVIEW
Frédéric Rieux-Laucat, Aude Magérus-Chatinet, Bénédicte Neven
The autoimmune lymphoproliferative syndrome (ALPS) is a non-malignant and non-infectious uncontrolled proliferation of lymphocytes accompanied by autoimmune cytopenia. The genetic etiology of the ALPS was described in 1995 by the discovery of the FAS gene mutations. 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 defects of this apoptosis pathway, such as FADD and CASPASE 8 deficiencies...
June 17, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29903870/gray-platelet-syndrome-mimicking-atypical-autoimmune-lymphoproliferative-syndrome-the-key-is-in-the-blood-smear
#2
Orna Steinberg-Shemer, Hannah Tamary
No abstract text is available yet for this article.
June 14, 2018: Blood
https://www.readbyqxmd.com/read/29867917/delayed-diagnosis-and-complications-of-predominantly-antibody-deficiencies-in-a-cohort-of-australian-adults
#3
Charlotte A Slade, Julian J Bosco, Tran Binh Giang, Elizabeth Kruse, Robert G Stirling, Paul U Cameron, Fiona Hore-Lacy, Michael F Sutherland, Sara L Barnes, Stephen Holdsworth, Samar Ojaimi, Gary A Unglik, Joseph De Luca, Mittal Patel, Jeremy McComish, Kymble Spriggs, Yang Tran, Priscilla Auyeung, Katherine Nicholls, Robyn E O'Hehir, Philip D Hodgkin, Jo A Douglass, Vanessa L Bryant, Menno C van Zelm
Background: Predominantly antibody deficiencies (PADs) are the most common type of primary immunodeficiency in adults. PADs frequently pass undetected leading to delayed diagnosis, delayed treatment, and the potential for end-organ damage including bronchiectasis. In addition, PADs are frequently accompanied by comorbid autoimmune disease, and an increased risk of malignancy. Objectives: To characterize the diagnostic and clinical features of adult PAD patients in Victoria, Australia...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29864493/synergistic-defects-of-novo-fas-and-homozygous-unc13d-leading-to-autoimmune-lymphoproliferative-syndrome-like-disease-a-10-year-old-chinese-boy-case-report
#4
Hao Gu, Jie Ma, Zhenping Chen, Jing Wang, Rui Zhang, Runhui Wu
Autoimmune lymphoproliferative syndrome (ALPS) usually presents in childhood with fever, nonmalignant splenomegaly and lymphadenopathy along with hemocytopenia. This case report describes a 10-year-old boy presenting with signs of autoimmune disease, splenomegaly, hepatomegaly and resistant hemocytopenia. Sirolimus controlled the relapsed thrombocytopenia after splenectomy. Sequencing of the FAS gene identified two spontaneous heterozygous mutations (c.234 T > G, p.D78E) (c.236dupA, p.P80Tfs*26). The boy's homozygous missense variation (c...
June 1, 2018: Gene
https://www.readbyqxmd.com/read/29860881/-rheumatological-manifestations-in-primary-immunodeficiency-diseases
#5
Melinda Zsuzsanna Szabó
Primary immune deficiencies (PIDs) are characterized by quantitative and/or functional abnormalities of the immune system elements. Bone and joint abnormalities are not rare in patients with immunodeficiencies. Joint manifestations, of which arthritis is the most common, occur mainly in humoral PIDs (X-linked agammaglobulinemia, common variable immunodeficiency, and IgA deficiency) and occasionally in defects of the phagocyte system (chronic granulomatous disease, glicogen storage diseases). Monoarthritis or oligoarthritis is the usual pattern, caused by Mycoplasma, Staphylococcus, Streptococcus, Pneumococcus or Haemophilus species...
June 2018: Orvosi Hetilap
https://www.readbyqxmd.com/read/29846841/an-update-on-autoinflammatory-diseases-relopathies
#6
REVIEW
Annemarie Steiner, Cassandra R Harapas, Seth L Masters, Sophia Davidson
PURPOSE OF REVIEW: The nuclear factor κB (NF-κB) pathway is tightly regulated through multiple posttranslational mechanisms including ubiquitination. Mutations in these regulatory pathways can cause disease and are the focus of this review. RECENT FINDINGS: The linear ubiquitin chain assembly complex (LUBAC) is a trimer made up of HOIL-1L, SHARPIN, and the catalytic subunit HOIP. Loss of function mutations in HOIL-1L and HOIP result in largely overlapping phenotypes, characterized by multi-organ autoinflammation, immunodeficiency, and amylopectinosis...
May 30, 2018: Current Rheumatology Reports
https://www.readbyqxmd.com/read/29766733/-hemophagocytic-lymfohistiocytosis-in-adults-review-and-case-report
#7
Jiří Šrámek, Thomas Karvunidis, Daniel Lysák, Martin Harazim, Michal Karas, Pavel Jindra
Hemophagocytic lymfohistiocytosis (HLH) is rare, life-threatening condition, characterized by excessive activation of immune system with subsequent proinflammatory state resulting in multiorgan failure. Most frequently, it appears in infancy as a primary disorder caused by mutation of immune-regulatory genes. Increasingly, HLH is being diagnosed as a secondary - adult - form, which occurs as a result of aberrant immune response. Viral or bacterial systemic infections, malignancy with a predominance of lymphoproliferative disorders and autoimmune diseases are the most common triggers...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29686686/autoimmune-lymphoproliferative-syndrome-fas-patients-have-an-abnormal-regulatory-t-cell-treg-phenotype-but-display-normal-natural-treg-suppressive-function-on-t-cell-proliferation
#8
Fabienne Mazerolles, Marie-Claude Stolzenberg, Olivier Pelle, Capucine Picard, Benedicte Neven, Alain Fischer, Aude Magerus-Chatinet, Frederic Rieux-Laucat
Objective: Autoimmune lymphoproliferative syndrome (ALPS) with FAS mutation (ALPS-FAS) is a nonmalignant, noninfectious, lymphoproliferative disease with autoimmunity. Given the central role of natural regulatory T cells (nTregs) in the control of lymphoproliferation and autoimmunity, we assessed nTreg-suppressive function in 16 patients with ALPS-FAS. Results: The proportion of CD25high CD127low Tregs was lower in ALPS-FAS patients than in healthy controls. This subset was correlated with a reduced CD25 expression in CD3+ CD4+ T cells from ALPS patients and thus an abnormally low proportion of CD25high FOXP3+ Helios+ T cells...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29682404/possible-association-of-multicentric-castleman-s-disease-with-autoimmune-lymphoproliferative-syndrome
#9
REVIEW
Hiroyuki Minemura, Yoshinori Tanino, Kazuhiko Ikeda
Multicentric Castleman's disease (MCD) is lymphoproliferative disorder characterized by systemic inflammatory symptoms such as fever and weight loss. Human herpes virus-8 (HHV-8) is thought to be a causable pathogen in all HIV-positive and some HIV-negative MCD patients. Furthermore, the term idiopathic MCD (iMCD) was recently proposed to represent a group of HIV-negative and HHV-8-negative patients with unknown etiologies. Although the international diagnostic criteria for iMCD require exclusion of infection-related disorders, autoimmune/autoinflammatory diseases and malignant/lymphoproliferative disorders to make an iMCD diagnosis, the relationships and differences between these disorders and MCD have not yet been clarified...
2018: BioResearch Open Access
https://www.readbyqxmd.com/read/29568782/proteinuria-hypoalbuminemia-and-chronic-lymphocytic-leukemia-an-unusual-trio
#10
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
#11
Agostino Nocerino, Erica Valencic, Claudia Loganes, Giorgio Pelos, Alberto Tommasini
No abstract text is available yet for this article.
March 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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
92034
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"