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Autoimmune lymphoproliferative syndrome

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https://www.readbyqxmd.com/read/28641577/a-case-report-of-septic-shock-syndrome-caused-by-s-pneumoniae-in-an-immunocompromised-patient-despite-of-vaccination
#1
Josef Singer, Christoph Testori, Peter Schellongowski, Ammon Handisurya, Catharina Müller, Eva-Maria Reitter, Wolfgang Graninger, Paul Knöbl, Thomas Staudinger, Stefan Winkler, Florian Thalhammer
BACKGROUND AND CASE PRESENTATION: We report a case of septic shock syndrome caused by Streptococcus pneumoniae in a patient who had undergone splenectomy due to an autoimmune lymphoproliferative syndrome (ALPS), which is characterized as a dysfunction of immunoregulation. Although the patient was vaccinated with a conjugated polysaccharide vaccine after the splenectomy, he was still susceptible to S. pneumoniae infection, because the isolated serovar (24F), a serovar long thought to be apathogenic, is not covered by any vaccine currently approved, neither a conjugated nor an unconjugated polysaccharide one...
June 22, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28579554/stat3-gain-of-function-mutations-associated-with-autoimmune-lymphoproliferative-syndrome-like-disease-deregulate-lymphocyte-apoptosis-and-can-be-targeted-by-bh3-mimetic-compounds
#2
Schafiq Nabhani, Cyrill Schipp, Hagit Miskin, Carina Levin, Sergey Postovsky, Tal Dujovny, Ariel Koren, Dan Harlev, Anne-Marie Bis, Franziska Auer, Baerbel Keller, Klaus Warnatz, Michael Gombert, Sebastian Ginzel, Arndt Borkhardt, Polina Stepensky, Ute Fischer
Autoimmune lymphoproliferative syndrome (ALPS) is typically caused by mutations in genes of the extrinsic FAS mediated apoptotic pathway, but for about 30% of ALPS-like patients the genetic diagnosis is lacking. We analyzed 30 children with ALPS-like disease of unknown cause and identified two dominant gain-of-function mutations of the Signal Transducer And Activator Of Transcription 3 (STAT3, p.R278H, p.M394T) leading to increased transcriptional activity. Hyperactivity of STAT3, a known repressor of FAS, was associated with decreased FAS-mediated apoptosis, mimicking ALPS caused by FAS mutations...
June 1, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28573819/use-of-eltrombopag-for-secondary-immune-thrombocytopenia-in-clinical-practice
#3
Tomás J González-López, María T Alvarez-Román, Cristina Pascual, Blanca Sánchez-González, Fernando Fernández-Fuentes, Gloria Pérez-Rus, José A Hernández-Rivas, Silvia Bernat, José M Bastida, María P Martínez-Badas, Violeta Martínez-Robles, Inmaculada Soto, Pavel Olivera, Estefanía Bolaños, Rafael Alonso, Laura Entrena, Marta Gómez-Nuñez, Arancha Alonso, María Yera Cobo, Isabel Caparrós, María Tenorio, Esther Arrieta-Cerdán, Elsa Lopez-Ansoar, Javier García-Frade, José R González-Porras
Eltrombopag is a second-line treatment in primary immune thrombocytopenia (ITP). However, its role in secondary ITP is unknown. We evaluated the efficacy and safety of eltrombopag in secondary ITP in daily clinical practice. Eighty-seven secondary ITP patients (46 with ITP secondary to autoimmune syndromes, 23 with ITP secondary to a neoplastic disease subtype: lymphoproliferative disorders [LPDs] and 18 with ITP secondary to viral infections) who had been treated with eltrombopag were retrospectively evaluated...
June 1, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28512017/a-case-of-autoimmune-severe-acquired-von-willebrand-syndrome-type-3-like
#4
Chakri Gavva, Prapti Patel, Yu-Min Shen, Eugene Frenkel, Ravi Sarode
Von Willebrand disease (VWD) is the most common congenital bleeding disorder and is due to quantitative or qualitative defects of von Willebrand factor (VWF). Acquired defects of VWF, termed acquired von Willebrand syndrome (AVWS), are due to a host of different mechanisms. Autoantibody-mediated AVWS may be associated with lymphoproliferative or immunological disorders, such as systemic lupus erythematosus (SLE). A large majority of AVWS cases are type 1 or type 2A-like and patients tend to have a mild to moderate bleeding tendency...
April 27, 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28500641/t-and-b-cell-clonal-expansion-in-ras-associated-lymphoproliferative-disease-rald-as-revealed-by-next-generation-sequencing
#5
Sarina Levy-Mendelovich, Atar Lev, Erez Rechavi, Ortal Barel, Hana Golan, Bela Bielorai, Yoram Neumann, Amos J Simon, Raz Somech
Ras associated lymphoproliferative disease (RALD) is an autoimmune lymphoproliferative syndrome (ALPS)-like disease caused by mutations in KRAS or NRAS. The immunological phenotype and pathogenesis of RALD have yet to be extensively studied. Here we report a thorough immunological investigation of a RALD patient with a somatic KRAS mutation. Patient lymphocytes were analyzed for phenotype, immunoglobulin levels and T cell proliferation capacity. T and B cell receptor excision circles (TREC and KREC, respectively), markers of naïve T and B cell production, were serially measured over three years...
May 12, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28473463/recessively-inherited-lrba-mutations-cause-autoimmunity-presenting-as-neonatal-diabetes
#6
Matthew B Johnson, Elisa De Franco, Hana Lango-Allen, Aisha Al Senani, Nancy Elbarbary, Zeynep Siklar, Merih Berberoglu, Zineb Imane, Alireza Haghighi, Irfan Ullah, Saif Alyaarubi, Daphne Gardner, Sian Ellard, Andrew T Hattersley, Sarah E Flanagan
Young-onset autoimmune diabetes associated with additional autoimmunity usually reflects a polygenic predisposition but rare cases result from monogenic autoimmunity. Diagnosing monogenic autoimmunity is crucial for patients' prognosis and clinical management. We sought to identify novel genetic causes of autoimmunity presenting with neonatal diabetes (NDM; diagnosis <6 months).We performed exome sequencing in a patient with NDM and autoimmune lymphoproliferative syndrome and his unrelated, unaffected parents and identified compound heterozygous null mutations in LRBA Biallelic LRBA mutations cause Common Variable Immunodeficiency-8, however NDM has not been confirmed in this disorder...
May 4, 2017: Diabetes
https://www.readbyqxmd.com/read/28466806/hcv-unrelated-cryoglobulinaemic-vasculitis-the-results-of-a-prospective-observational-study-by-the-italian-group-for-the-study-of-cryoglobulinaemias-gisc
#7
Massimo Galli, Letizia Oreni, Francesco Saccardo, Laura Castelnovo, Davide Filippini, Piero Marson, Maria Teresa Mascia, Cesare Mazzaro, Laura Origgi, Elena Ossi, Maurizio Pietrogrande, Piero Pioltelli, Luca Quartuccio, Salvatore Scarpato, Salvatore Sollima, Agostino Riva, Paolo Fraticelli, Roberta Zani, Dilia Giuggioli, Marco Sebastiani, Piercarlo Sarzi Puttini, Armando Gabrielli, Anna Linda Zignego, Patrizia Scaini, Clodoveo Ferri, Salvatore De Vita, Giuseppe Monti
OBJECTIVES: To investigate the clinical and laboratory patterns of HCV-unrelated cryoglobulinaemic vasculitis (CV), and the factors influencing its outcome. METHODS: Prospective study of all anti-HCV and HCV-RNA negative patients with CV who have been observed since January 2004 in 17 centres participating in the Italian Group for the Study of Cryoglobulinaemias (GISC). RESULTS: 175 enrolled were followed up for 677 person-years. The associated conditions were primary Sjögren's syndrome (21...
March 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28454112/the-challenge-of-treating-hepatitis-c-virus-associated-cryoglobulinemic-vasculitis-in-the-era-of-anti-cd20-monoclonal-antibodies-and-direct-antiviral-agents
#8
REVIEW
Dario Roccatello, Savino Sciascia, Daniela Rossi, Laura Solfietti, Roberta Fenoglio, Elisa Menegatti, Simone Baldovino
Mixed cryoglobulinemia syndrome (MC) is a systemic vasculitis involving kidneys, joints, skin, and peripheral nerves. While many autoimmune, lymphoproliferative, and neoplastic disorders have been associated with this disorder, hepatitis C virus (HCV) is known to be the etiologic agent in the majority of patients. Therefore, clinical research has focused on anti-viral drugs and, more recently, on the new, highly potent Direct-acting Antiviral Agents (DAAs). These drugs assure sustained virologic response (SVR) rates >90%...
June 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28395106/primary-congenital-immunodeficiency-2015-sh-eahp-workshop-report-part-5
#9
Dita Gratzinger, Elaine S Jaffe, Amy Chadburn, John K C Chan, Daphne de Jong, John R Goodlad, Jonathan Said, Yasodha Natkunam
Objectives: The 2015 Workshop of the Society for Hematopathology/European Association for Haematopathology aimed to review primary immunodeficiency and related lymphoproliferations. Methods: Primary immunodeficiencies were divided into immune dysregulation, DNA repair defects, low immunoglobulins, and combined immunodeficiencies. Results: Autoimmune lymphoproliferative syndrome (ALPS) is a prototypical immune dysregulation-type immunodeficiency, with defects in T-cell signaling or apoptosis, expansion of T-cell subsets, and predisposition to hemophagocytic lymphohistiocytosis...
February 1, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28349581/tcf1-deficiency-ameliorates-autoimmune-lymphoproliferative-syndrome-alps-like-phenotypes-of-lpr-lpr-mice
#10
Xiaoxie Xu, Bolan Yu, Weibin Cai, Zhaofeng Huang
Autoimmune lymphoproliferative syndrome (ALPS) is an incurable disease, which is characterized by non-malignant autoimmune lymphoproliferation. TCF1 is a key effector in the canonical Wnt/β-catenin pathway, regulating the development, activation and function of T cells. In this study, we aimed to explore the potential role of TCF1 in the development of ALPS-like phenotypes of lpr/lpr mice. We acquired TCF1(-/-) lpr/lpr double mutant mice by crossing TCF1 deficiency mice with lpr/lpr mice. Splenocyte compositions, serum cytokines levels, anti-dsDNA antibody production and kidney pathology were examined in the TCF1(-/-) lpr/lpr mice...
March 28, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28288231/-primary-immunodeficiencies-in-seriously-ill-children-report-of-3-clinical-cases
#11
Leticia Yáñez, Pamela Lama, Carolina Rivacoba, Juanita Zamorano, María Angélica Marinovic
Primary immunodeficiency diseases (PID) are congenital disorders secondary to an impaired immune response. Infections, autoimmune disorders, atopy, and lymphoproliferative syndromes are commonly associated with this disorder. OBJECTIVE: To present and discuss 3 infants diagnosed with PID. CLINICAL CASES: The cases are presented of three patients with PID diagnosed during their first admission to a Paediatric Intensive Critical Care Unit. The first patient, a 4-month-old infant affected by a severe pneumonia, and was diagnosed as a Severe Combined Immunodeficiency Disease...
February 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28276715/inflammation-in-sj%C3%A3-gren-s-syndrome-cause-or-consequence
#12
Ana Raquel Rodrigues, Raquel Soares
Sjögren's syndrome (SS) is an autoimmune disease most commonly characterized by ocular and oral dryness. Despite the high prevalence of SS, generation and perpetuation of this disease is still unclear in many aspects. Inflammation, nonetheless, seems to play a central role in this pathology especially in the form of Th-1, Th-2 and Th-17 cytokines release within different aspects, concentrations and connections involved in the maintenance of the syndrome. Moreover, the chronically created pro-inflammatory environment appears to promote glandular atrophy and irreparable architectural modifications...
May 2017: Autoimmunity
https://www.readbyqxmd.com/read/28123330/the-plethora-clinical-manifestations-and-treatment-options-of-autoimmunity-in-patients-with-primary-immunodeficiency
#13
Hatice Ezgi Barış, Ayça Kıykım, Ercan Nain, Ahmet Oğuzhan Özen, Elif Karakoç-Aydıner, Safa Barış
AIM: Although the association between primary immunodeficiency and autoimmunity is already well-known, it has once again become a topic of debate with the discovery of newly-defined immunodeficiencies. Thus, investigation of the mechanisms of development of autoimmunity in primary immunodefficiency and new target-specific therapeutic options has come to the fore. In this study, we aimed to examine the clinical findings of autoimmunity, autoimmunity varieties, and treatment responses in patients who were genetically diagnosed as having primary immunodeficiency...
December 2016: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28101633/erratum-to-a-fas-ligand-variant-associated-with-autoimmune-lymphoproliferative-syndrome-in-cats
#14
Danielle Aberdein, John S Munday, Barbara Gandolfi, Keren E Dittmer, Richard Malik, Dorian J Garrick, Leslie A Lyons
No abstract text is available yet for this article.
January 18, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28087326/autoimmune-lymphoproliferative-syndrome-caused-by-homozygous-fas-mutations-with-normal-or-residual-protein-expression
#15
Nourhen Agrebi, Lamia Sfaihi Ben-Mansour, Moez Medhaffar, Sondes Hadiji, Faten Fedhila, Meriem Ben-Ali, Najla Mekki, Mongia Hachicha, Sihem Barsaoui, Mohamed-Ridha Barbouche, Imen Ben-Mustapha
No abstract text is available yet for this article.
January 10, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28028990/acquired-von-willebrand-syndrome
#16
REVIEW
Andrzej Mital
Acquired von Willebrand syndrome is a rare hemorrhagic diathesis, with clinical symptoms similar to those associated with the inherited form von Willebrand disease. This syndrome is characterized by a lack of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Most commonly, acquired von Willebrand syndrome develops in the course of other conditions, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders; additionally, it can be associated with some non-hematological malignancies and use of certain prescription drugs...
November 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/27979843/unexplained-lymphadenopathies-autoimmune-lymphoproliferative-syndrome-in-an-adult-patient
#17
Fatima Leal-Seabra, Gonçalo Sarmento Costa, Henrique Pereira Coelho, Agripino Oliveira
Autoimmune lymphoproliferative syndrome (ALPS) is characterised by massive enlargement of the lymphoid organs, autoimmune cytopenias and a predisposition to develop lymphoid malignancies. The basic defect is a disturbance of the lymphocyte apoptosis, and a high number of circulating TCRab CD3(+)CD4(-)CD8(-) T-cells (double-negative T cells (DNT cells)). We describe a case of a 41-year-old man with fever, hepatosplenomegaly, multiple lymphadenopathy, autoimmune haemolytic anaemia and severe thrombocytopenia...
December 15, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27940897/corrigendum-to-abnormal-thymic-maturation-and-lymphoproliferation-in-mrl-faslpr-lpr-mice-can-be-partially-reversed-by-synthetic-oligonucleotides-implications-for-systemic-lupus-erythematosus-and-autoimmune-lymphoproliferative-syndrome
#18
https://www.readbyqxmd.com/read/27913462/pure-red-cell-aplasia
#19
REVIEW
Robert T Means
Pure red cell aplasia (PRCA) is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. Diamond-Blackfan anemia is a congenital form of PRCA. Acquired PRCA may be either a primary disorder or secondary to some other disorder or agent. Primary acquired PRCA is an autoimmune disorder that is frequently antibody-mediated. Myelodysplastic syndromes may also present with the morphologic appearance of PRCA. Secondary acquired PRCA may be associated with collagen vascular/autoimmune disorders such as systemic lupus erythematosus; lymphoproliferative disorders such as chronic lymphocytic leukemia or large granular lymphocyte leukemia; infections, particularly B19 parvovirus; thymoma and other solid tumors; or a variety of other disorders, drugs, or toxic agents...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27881371/pure-red-cell-aplasia
#20
REVIEW
Robert T Means
Pure red cell aplasia (PRCA) is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. Diamond-Blackfan anemia is a congenital form of PRCA. Acquired PRCA may be either a primary disorder or secondary to some other disorder or agent. Primary acquired PRCA is an autoimmune disorder that is frequently antibody-mediated. Myelodysplastic syndromes may also present with the morphologic appearance of PRCA. Secondary acquired PRCA may be associated with collagen vascular/autoimmune disorders such as systemic lupus erythematosus; lymphoproliferative disorders such as chronic lymphocytic leukemia or large granular lymphocyte leukemia; infections, particularly B19 parvovirus; thymoma and other solid tumors; or a variety of other disorders, drugs, or toxic agents...
November 24, 2016: Blood
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