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Matteo Menotti, Chiara Ambrogio, Taek-Chin Cheong, Chiara Pighi, Ines Mota, Seth H Cassel, Mara Compagno, Qi Wang, Riccardo Dall'Olio, Valerio G Minero, Teresa Poggio, Geeta Geeta Sharma, Enrico Patrucco, Cristina Mastini, Ramesh Choudhari, Achille Pich, Alberto Zamo, Roberto Piva, Silvia Giliani, Luca Mologni, Clayton K Collings, Cigall Kadoch, Carlo Gambacorti-Passerini, Luigi D Notarangelo, Ines M Anton, Claudia Voena, Roberto Chiarle
In T lymphocytes, the Wiskott-Aldrich Syndrome protein (WASP) and WASP-interacting-protein (WIP) regulate T cell antigen receptor (TCR) signaling, but their role in lymphoma is largely unknown. Here we show that the expression of WASP and WIP is frequently low or absent in anaplastic large cell lymphoma (ALCL) compared to other T cell lymphomas. In anaplastic lymphoma kinase-positive (ALK+) ALCL, WASP and WIP expression is regulated by ALK oncogenic activity via its downstream mediators STAT3 and C/EBP-β. ALK+ lymphomas were accelerated in WASP- and WIP-deficient mice...
December 3, 2018: Nature Medicine
Hui-Hui Song, Zheng-Ping Yu, Wen-Duo Heg, Jia-Hua Ding, Bao-An Chen
OBJECTIVE: To explore the clinical efficacy and safety of unrelated umbilical cord blood transplantation (UCBT) for the treatment of Wiskott-Aldrich syndrome(WAS). METHODS: Five pediatric patients with WAS received single UCBT were retrospectively analyzed. The median age of these male patients was 268 days (range, 3 days -695 days). Among them, 2 patients were transplanted with a 6/6 matched cord blood graft,the other 3 patients received a 5/6 matched cord blood graft...
December 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
Renu Khasa, Anuradha Vaidya, Sudhanshu Vrati, Manjula Kalia
Japanese encephalitis virus (JEV), a mosquito-borne flavivirus, is one of the leading global causes of virus-induced encephalitis. The infectious life-cycle of viruses is heavily dependent on the host membrane trafficking network. Here, we have performed a RNA-interference-based screen using a siRNA panel targeting 136 membrane trafficking proteins to identify the key regulators of JEV infection in HeLa cells. We identified 35 proteins whose siRNA depletion restricts JEV replication by over twofold. We observe that JEV infection in HeLa cells is largely dependent on components of the clathrin-mediated endocytic (CME) pathway...
November 29, 2018: Journal of General Virology
Connor J Balzer, Andrew R Wagner, Luke A Helgeson, Brad J Nolen
When activated by Wiskott-Aldrich syndrome proteins (WASP), Arp2/3 complex nucleates branched actin filaments important for processes like cellular motility and endocytosis [1]. WASP-mediated activation of Arp2/3 complex requires a preformed actin filament, ensuring that activation by WASP creates branched instead of linear filaments. However, this biochemical requirement also means that assembly of branched actin networks must be primed with an initial seed filament [2-4]. We recently described a class of activators called WISH/DIP/SPIN90 (WDS) proteins, which, unlike WASP, activate Arp2/3 complex without a preformed filament [4]...
November 10, 2018: Current Biology: CB
Juliana Folloni Fernandes, Samantha Nichele, Liane E Daudt, Rita B Tavares, Adriana Seber, Fábio R Kerbauy, Adriana Koliski, Gisele Loth, Ana K Vieira, Luiz G Darrigo-Junior, Vanderson Rocha, Alessandra A Gomes, Vergílio Colturato, Luiz F Mantovani, Andreza F Ribeiro, Lisandro L Ribeiro, Cilmara Kuwahara, Ana L M Rodrigues, Victor G Zecchin, Beatriz T Costa-Carvalho, Magda Carneiro-Sampaio, Antonio Condino-Neto, Anders Fasth, Andrew Gennery, Ricardo Pasquini, Nelson Hamerschlak, Carmem Bonfim
The results of hematopoietic stem cell transplant (HSCT) for primary immunodeficiency diseases (PID) have been improving over time. Unfortunately, developing countries do not experience the same results. This first report of Brazilian experience of HSCT for PID describes the development and results in the field. We included data from transplants in 221 patients, performed at 11 centers which participated in the Brazilian collaborative group, from July 1990 to December 2015. The majority of transplants were concentrated in one center (n = 123)...
November 24, 2018: Journal of Clinical Immunology
Wolfgang Schwinger, Christian Urban, Raphael Ulreich, Daniela Sperl, Anna Karastaneva, Volker Strenger, Herwig Lackner, Kaan Boztug, Michael H Albert, Martin Benesch, Markus G Seidel
Early diagnosis of primary immunodeficiency disorders (PID) is vital and allows directed treatment, especially in syndromes with severe or profound combined immunodeficiency. In PID patients with perinatal CMV or other opportunistic, invasive infections (e.g., Pneumocystis or Aspergillus ), multi-organ morbidity may already arise within the first months of life, before hematopoietic stem cell transplantation (HSCT) or gene therapy can be undertaken, compromising the definitive treatment and outcome. Deficiency of Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP deficiency) causes an autosomal recessive, WAS-like syndrome with early-onset combined immunodeficiency that has been described in three pedigrees to date...
2018: Frontiers in Immunology
Li Ding, Lingling Han, John Dube, Daniel D Billadeau
WASH is an endosomal protein belonging to the Wiskott-Aldrich syndrome protein superfamily that participates in endosomal receptor trafficking by facilitating tubule fission via activation of the ubiquitously expressed Arp2/3 complex. While several studies have begun to understand the functions of WASH in cells lines, the in vivo function of WASH has not been fully elucidated since total body deletion in mice leads to early embryonic lethality. To circumvent this problem, we have used a WASH conditional knockout mouse model to investigate the role of WASH in the pancreas...
November 13, 2018: Diabetes
Naouel Guirat Dhouib, Monia Ben Khaled, Monia Ouederni, Imen Ben-Mustapha, Ridha Kouki, Habib Besbes, Mohamed Ridha Barbouche, Fethi Mellouli, Mohamed Bejaoui
Skin manifestations are frequent among patients with primary immunodeficiency diseases (PIDs). Their prevalence varies according to the type of immunodeficiency. This review provides the reader with an up-to-date summary of the common dermatologic manifestations of PIDs among Tunisian children. We conducted a prospective study on two hundred and ninety children with immune deficiency. Demographic details (including age, sex, and consanguinity) with personal and family history were recorded. Special attention was paid to cutaneous manifestations...
2018: Mediterranean Journal of Hematology and Infectious Diseases
Catherine M Sawai, Lee Serpas, Antonio Galvao Neto, Geunhyo Jang, Ali Rashidfarrokhi, Roland Kolbeck, Miguel A Sanjuan, Boris Reizis, Vanja Sisirak
Inflammatory bowel disease (IBD) is a chronic inflammatory condition caused by an aberrant immune response to microbial components of the gastrointestinal tract. Plasmacytoid dendritic cells (pDCs) are innate immune cells specialized in the production of type I interferons and were recently implicated in the pathogenesis of autoimmune disorders such as lupus and scleroderma. While pDCs were shown to infiltrate intestinal mucosa of IBD patients and proposed to participate in intestinal inflammation, their net contribution to the disease remains unclear...
2018: Frontiers in Immunology
Temo Barwari, Seda Eminaga, Ursula Mayr, Ruifang Lu, Paul C Armstrong, Melissa V Chan, Mahnaz Sahraei, Marta Fernández-Fuertes, Thomas Moreau, Javier Barallobre-Barreiro, Marc Lynch, Xiaoke Yin, Christian Schulte, Ferheen Baig, Raimund Pechlaner, Sarah R Langley, Anna Zampetaki, Peter Santer, Martin Weger, Roberto Plasenzotti, Markus Schosserer, Johannes Grillari, Stefan Kiechl, Johann Willeit, Ajay M Shah, Cedric Ghevaert, Timothy D Warner, Carlos Fernández-Hernando, Yajaira Suárez, Manuel Mayr
Fibrosis is a major contributor to organ disease for which no specific therapy is available. MicroRNA-21 (miR-21) has been implicated in the fibrogenetic response, and inhibitors of miR-21 are currently undergoing clinical trials. Here, we explore how miR-21 inhibition may attenuate fibrosis using a proteomics approach. Transfection of miR-21 mimic or inhibitor in murine cardiac fibroblasts revealed limited effects on extracellular matrix (ECM) protein secretion. Similarly, miR-21-null mouse hearts showed an unaltered ECM composition...
November 2, 2018: JCI Insight
Funda Erol Cipe, Mehmet Halil Celiksoy, Biray Erturk, Çiğdem Aydogmus
INTRODUCTION: Severe congenital neutropenia (SCN) includes a group of genetic disorders which cause to arrest of neutrophil maturation. SCN can be associated with heterogenous group of genetic defects in ELANE, GFI1, HAX1, G6PC3, JAGN1, VPS45 or activating mutations in the Wiskott-Aldrich syndrome (WAS) gene. AIM: Here we report a patient who has a HAX1 mutation presented with cyclic manner. CASE REPORT: A 6 year old female patients was admitted with recurrent apthous stomatitis...
October 22, 2018: Pediatric Hematology and Oncology
Caroline Y Kuo
PURPOSE OF REVIEW: Conventional gene therapy has been a successful, curative treatment modality for many primary immune deficiencies with significant improvements in the last decade. However, the risk of leukemic transformation with viral-mediated gene addition still remains, and unregulated gene addition is not an option for certain diseases in which the target gene is closely controlled. The recent bloom in genome modification platforms has created the opportunity to site-specifically correct mutated DNA base pairs or insert a corrective cDNA minigene while maintaining gene expression under control of endogenous regulatory elements...
December 2018: Current Opinion in Allergy and Clinical Immunology
Benjamin R Hanisch, Blachy J Davila Saldana, Michael D Keller, Xiaoyan Song
PURPOSE: Patients with primary immunodeficiency diseases (PID) are perceived to be at high risk for acquiring as well as developing complications from infections. There is little data describing the infection type and frequency these patients may acquire in the community or during hospital admissions. Data is critically needed in order to inform best practices on how to protect these vulnerable patients. METHODS: This is a retrospective study which included PID patients who were discharged from Children's National Health System (CNHS) from January 1, 2011, through August 31, 2017, and were assigned a discharge diagnosis code indicating PID...
October 2018: Journal of Clinical Immunology
Ramya Uppuluri, Dhaarani Jayaraman, Meena Sivasankaran, Shivani Patel, Venkateswaran Vellaichamy Swaminathan, Lakshman Vaidhyanathan, Sathishkumar Kandath, Revathi Raj
OBJECTIVE: To share experience of over 15 years in hematopoietic stem cell transplantation in children with primary immunodeficiency disorders. DESIGN: Medical record review. SETTING: A referral center for pediatric hemato-oncological disorders. PARTICIPANTS: Children (<18 y) diagnosed to have primary immune deficiencies who underwent hematopoietic stem cell transplantation between 2002 and August 2017. MAIN OUTCOME MEASURES: Disease-free survival, morbidity and mortality...
August 15, 2018: Indian Pediatrics
Eun Sang Yi, Young Bae Choi, Na Hee Lee, Ji Won Lee, Ki Woong Sung, Hong Hoe Koo, Eun-Sook Kang, Yae-Jean Kim, Keon Hee Yoo
PURPOSE: We aimed to report our single-center experience of allogeneic hematopoietic cell transplantation (HCT), which has been the only curative option for certain patients with lethal primary immunodeficiencies (PIDs). METHODS: We summarized the results of HCT performed for patients with PIDs for 11 consecutive years from 2006 to 2016 at Samsung Medical Center, Seoul, Korea. Twenty-six patients with PIDs received HCT. Most had chronic granulomatous disease (42...
October 2018: Journal of Clinical Immunology
Marton Keszei, Julien Record, Joanna S Kritikou, Hannah Wurzer, Chiara Geyer, Meike Thiemann, Paul Drescher, Hanna Brauner, Laura Köcher, Jaime James, Minghui He, Marisa Ap Baptista, Carin Im Dahlberg, Amlan Biswas, Sonia Lain, David P Lane, Wenxia Song, Katrin Pütsep, Peter Vandenberghe, Scott B Snapper, Lisa S Westerberg
Congenital neutropenia is characterized by low absolute neutrophil numbers in blood, leading to recurrent bacterial infections, and patients often require life-long granulocyte CSF (G-CSF) support. X-linked neutropenia (XLN) is caused by gain-of-function mutations in the actin regulator Wiskott-Aldrich syndrome protein (WASp). To understand the pathophysiology in XLN and the role of WASp in neutrophils, we here examined XLN patients and 2 XLN mouse models. XLN patients had reduced myelopoiesis and extremely low blood neutrophil number...
August 31, 2018: Journal of Clinical Investigation
George J N Tetley, Aydan Szeto, Adam J Fountain, Helen R Mott, Darerca Owen
Wiskott-Aldrich syndrome protein (WASP) activates the actin-related protein 2/3 homolog (Arp2/3) complex and regulates actin polymerization in a physiological setting. Cell division cycle 42 (Cdc42) is a key activator of WASP, which binds Cdc42 through a Cdc42/Rac-interactive binding (CRIB)-containing region that defines a subset of Cdc42 effectors. Here, using site-directed mutagenesis and binding affinity determination and kinetic assays, we report the results of an investigation into the energetic contributions of individual WASP residues to both the Cdc42-WASP binding interface and the kinetics of complex formation...
September 28, 2018: Journal of Biological Chemistry
Mehmet Akif Onalan, Omer Ali Sayin, Emin Tireli
Aortic aneurysms are a rare condition in children. Wiskott-Aldrich syndrome is a primary immunodeficiency characterized by infections, thrombocytopenia, and eczema. Aortitis and aneurysm formation seem to be progressive in patients with Wiskott-Aldrich syndrome. The risk of death from aneurysmal rupture in patients with Wiskott-Aldrich syndrome is high and surgery is required for resection of aneurysms. We report a case where a successful resection of a descending thoracic aneurysm. We present a-12 year-old child with this syndrome who underwent a one-stage descending aortic aneurysm repair under continuous visceral perfusion...
July 2, 2018: Heart Surgery Forum
Lin Song, Ramesh Rijal, Malte Karow, Maria Stumpf, Oliver Hahn, Laura Park, Robert Insall, Rolf Schröder, Andreas Hofmann, Christoph S Clemen, Ludwig Eichinger
Hereditary spastic paraplegias (HSPs) are genetically diverse and clinically characterised by lower limb weakness and spasticity. The N471D and several other point mutations of human strumpellin (Str; also known as WASHC5), a member of the Wiskott-Aldrich syndrome protein and SCAR homologue (WASH) complex, have been shown to cause a form of HSP known as spastic paraplegia 8 (SPG8). To investigate the molecular functions of wild-type (WT) and N417D Str, we generated Dictyostelium Str- cells and ectopically expressed StrWT -GFP or StrN471D -GFP in Str- and WT cells...
September 13, 2018: Disease Models & Mechanisms
Reem Ahmed Elfeky, Juliana M Furtado-Silva, Robert Chiesa, Kanchan Rao, Persis Amrolia, Giovanna Lucchini, Kimberly Gilmour, Stuart Adams, Shahnaz Bibi, Austen Worth, Adrian J Thrasher, Waseem Qasim, Paul Veys
No abstract text is available yet for this article.
July 25, 2018: Journal of Allergy and Clinical Immunology
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