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Wiskott–Aldrich syndrome

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https://www.readbyqxmd.com/read/28646090/cellular-functions-of-wasp-family-proteins-at-a-glance
#1
REVIEW
Olga Alekhina, Ezra Burstein, Daniel D Billadeau
Proteins of the Wiskott-Aldrich syndrome protein (WASP) family function as nucleation-promoting factors for the ubiquitously expressed Arp2/3 complex, which drives the generation of branched actin filaments. Arp2/3-generated actin regulates diverse cellular processes, including the formation of lamellipodia and filopodia, endocytosis and/or phagocytosis at the plasma membrane, and the generation of cargo-laden vesicles from organelles including the Golgi, endoplasmic reticulum (ER) and the endo-lysosomal network...
June 23, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28643468/eltrombopag-use-in-a-patient-with-wiskott-aldrich-syndrome
#2
Maria Gabelli, Antonio Marzollo, Lucia Dora Notarangelo, Giuseppe Basso, Maria Caterina Putti
Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder characterized by microthrombocytopenia, immunodeficiency, and eczema. Hematopoietic stem cell transplantation (HSCT) is the treatment of choice. Eltrombopag, a thrombopoietin receptor agonist, may be useful to prevent bleeding while awaiting HSCT. We present a case of a male with WAS, profound thrombocytopenia, and bleeding diathesis successfully managed with eltrombopag before HSCT. Eltrombopag was given for 32 weeks obtaining a stable platelet count without any platelet transfusion...
June 23, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28641574/intermittent-low-platelet-counts-hampering-diagnosis-of-x-linked-thrombocytopenia-in-children-report-of-two-unrelated-cases-and-a-novel-mutation-in-the-gene-coding-for-the-wiskott-aldrich-syndrome-protein
#3
Samuel Souza Medina, Lúcia Helena Siqueira, Marina Pereira Colella, Gabriela Goes Yamaguti-Hayakawa, Bruno Kosa Lino Duarte, Maria Marluce Dos Santos Vilela, Margareth Castro Ozelo
BACKGROUND: Thrombocytopenia can occur in different circumstances during childhood and although immune thrombocytopenia is its most frequent cause, it is important to consider other conditions, especially when there is a persistent or recurrent low platelet count. We report two cases of intermittent thrombocytopenia, previously misdiagnosed as immune thrombocytopenia. CASES PRESENTATION: Both cases described were boys who presented with an intermittent pattern of thrombocytopenia, with a persistently low mean platelet volume...
June 22, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28600891/spontaneous-food-allergy-in-was-mice-occurs-independent-of-fc%C3%AE%C2%B5ri-mediated-mast-cell-activation
#4
Willem S Lexmond, Jeremy A Goettel, Benjamin F Sallis, Katelyn McCann, Edmond H H M Rings, Erika Jensen-Jarolim, Samuel Nurko, Scott B Snapper, Edda Fiebiger
BACKGROUND: Food allergies are a growing health problem and the development of therapies that prevent disease onset is limited by the lack of adjuvant-free experimental animal models. We compared allergic sensitization in patients with food allergy or Wiskott-Aldrich syndrome (WAS) and defined whether spontaneous disease in Was(-/-) mice recapitulates the pathology of a conventional disease model and/or human food allergy. METHODS: Comparative ImmunoCAP ISAC microarray was performed in patients with food allergy or WAS...
June 10, 2017: Allergy
https://www.readbyqxmd.com/read/28597144/multicolor-flow-cytometry-for-the-diagnosis-of-primary-immunodeficiency-diseases
#5
Takehiro Takashima, Miko Okamura, Tzu-Wen Yeh, Tsubasa Okano, Motoi Yamashita, Keisuke Tanaka, Akihiro Hoshino, Noriko Mitsuiki, Masatoshi Takagi, Eiichi Ishii, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio
PURPOSE: Primary immunodeficiency diseases (PIDDs) are rare inherited diseases that impair the human immune system. We established a multicolor flow cytometric assay to comprehensively evaluate the immune status and immunological characteristics of patients with PIDDs. METHODS: Fifty-nine normal controls and 75 patients with PIDDs, including X-linked severe combined immunodeficiency (X-SCID), X-linked agammaglobulinemia (XLA), X-linked hyper IgM syndrome (X-HIGM), ataxia telangiectasia (AT), Wiskott-Aldrich syndrome (WAS), hyper IgE syndrome (HIES), and chronic mucocutaneous candidiasis disease (CMCD), were enrolled in this study...
June 8, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28565822/molecular-and-cellular-impact-of-psoriasin-s100a7-on-the-healing-of-human-wounds
#6
Aravindan Rangaraj, Lin Ye, Andrew James Sanders, Patricia Elaine Price, Keith Gordon Harding, Wen Guo Jiang
Psoriasin, which is also known as S100A7, is a member of the S100 protein family, a group of calcium-responsive signalling proteins. Psoriasin expression remains high in patients with psoriasis, whereas it is downregulated in patients with invasive breast carcinoma. This observation suggests that this protein may be a notable marker of keratinocyte function and differentiation during wound healing. The aim of the present study was to determine the cellular impact of Psoriasin in keratinocytes, which are the primary cell type associated with wound healing...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28551638/modulation-of-melanotransferrin-and-transferrin-receptor-1-tfrc-and-cd44-based-signaling-for-tfrc-up-regulation-in-human-melanoma-cells
#7
Friedemann Laube, Dagobert Glanz
BACKGROUND: The human melanoma cell line IGR-1 was used for the detection and regulation of both melanotransferrin (MTf) and transferrin receptor 1 (TFRC, CD71). While the function in iron transport of the TFRC is well documented the functional importance of MTf is not yet fully understood. Due to the up-regulation of TFRC by hyaluronan (HA) some components and aspects of CD44 signaling were investigated. MATERIALS AND METHODS: The cell-surface proteins MTf, TFRC and ERBB2 receptor tyrosine kinase 2 (ERBB2) were detected by immunoluminescent technique using different polyclonal and monoclonal antibodies...
June 2017: Anticancer Research
https://www.readbyqxmd.com/read/28551275/genetic-analysis-of-vcp-and-wash-complex-genes-in-a-german-cohort-of-sporadic-als-ftd-patients
#8
Matthias Türk, Rolf Schröder, Katharina Khuller, Andreas Hofmann, Carolin Berwanger, Albert C Ludolph, Gabriele Dekomien, Kathrin Müller, Jochen H Weishaupt, Christian T Thiel, Christoph S Clemen
Mutations of the human valosin-containing protein, p97 (VCP) and Wiskott-Aldrich syndrome protein and SCAR homolog (WASH) complex genes cause motor neuron and cognitive impairment disorders. Here, we analyzed a cohort of German patients with sporadic amyotrophic lateral sclerosis and frontotemporal lobar degeneration comorbidity (ALS/FTD) for VCP and WASH complex gene mutations. Next-generation panel sequencing of VCP, WASH1, FAM21C, CCDC53, SWIP, strumpellin, F-actin capping protein of muscle Z-line alfa 1 (CAPZA1), and CAPZB genes was performed in 43 sporadic ALS/FTD patients...
May 3, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28539360/a-dock-and-coalesce-mechanism-driven-by-hydrophobic-interactions-governs-cdc42-binding-with-its-effector-protein-ack
#9
George J N Tetley, Helen R Mott, R Neil Cooley, Darerca Owen
Cdc42 is a Rho-family small G protein that has been widely studied for its role in controlling the actin cytoskeleton and plays a part in several potentially oncogenic signalling networks. Similar to most other small G proteins, Cdc42 binds to many downstream effector proteins to elicit its cellular effects. These effector proteins all engage the same face of Cdc42, the conformation of which is governed by the activation state of the G protein. Previously, the importance of individual residues in conferring binding affinity has been explored for residues within Cdc42 for three of its CRIB effectors, activated Cdc42 kinase (ACK), p21-activated kinase (PAK), and Wiskott-Aldrich syndrome protein (WASP)...
May 24, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28538502/successful-reduced-intensity-allogeneic-transplant-with-full-donor-chimerism-and-good-quality-of-life-in-adolescent-patient-with-wiskott-aldrich-syndrome
#10
Salah Ali, Anna Gacsadi, Elizabeth McDougall, Christine Armstrong, Joerg Krueger, Tal Schechter, Muhammad Ali
Wiskott-Aldrich syndrome (WAS) is an X-linked disease characterized by microthrombocytopenia, eczema, immune deficiency, and autoimmune phenomena. Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment. Myeloablative conditioning is the most common regimen used for HSCT in patients with WAS to avoid the risk of mixed donor chimerism and autoimmunity post-HSCT. There is limited data on the use of reduced intensity conditioning for HSCT in patients with WAS. Here, we report a case with severe phenotype of WAS transplanted successfully with reduced intensity conditioning, which is an acceptable conditioning regimen and can be considered in patients with WAS with significantly impaired organ functions...
May 22, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28535968/abnormal-distribution-of-distinct-lymphocyte-subsets-in-children-with-wiskott-aldrich-syndrome
#11
Lina Zhou, Wenyan Li, Xuan Zhang, Dawei Liu, Yuan Ding, Rongxin Dai, Xiaodong Zhao
Wiskott-Aldrich syndrome (WAS) is a severe and rare primary immunodeficiency. Several studies show that WAS protein (WASp) plays a key role in the function of certain lymphocyte subsets. So far, no study has described distinct immunophenotypic abnormalities associated with WAS; thus the prognostic significance of any such abnormalities is unclear. This study examined many differences in the percentage/absolute numbers of distinct lymphocyte subsets in 20 WAS patients and 20 age/sex-matched healthy controls, and analyzed the association between these abnormalities and clinical disease scores...
May 20, 2017: Human Immunology
https://www.readbyqxmd.com/read/28512459/in-vivo-chronic-stimulation-unveils-autoreactive-potential-of-wiskott-aldrich-syndrome-protein-deficient-b-cells
#12
Maria Carmina Castiello, Francesca Pala, Lucia Sereni, Elena Draghici, Donato Inverso, Aisha V Sauer, Francesca Schena, Elena Fontana, Enrico Radaelli, Paolo Uva, Karla E Cervantes-Luevano, Federica Benvenuti, Pietro L Poliani, Matteo Iannacone, Elisabetta Traggiai, Anna Villa, Marita Bosticardo
Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency caused by mutations in the gene encoding the hematopoietic-specific WAS protein (WASp). WAS is frequently associated with autoimmunity, indicating a critical role of WASp in maintenance of tolerance. The role of B cells in the induction of autoreactive immune responses in WAS has been investigated in several settings, but the mechanisms leading to the development of autoimmune manifestations have been difficult to evaluate in the mouse models of the disease that do not spontaneously develop autoimmunity...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28476025/high-wave3-expression-correlates-with-proliferation-migration-and-invasion-in-human-ovarian-cancer
#13
Jin Lu, Su-Li Wang, Ying-Chun Wang, Yi-Nan Wu, Xi Yu, Wan-Zhou Zhao, Jin-Hua Wang
BACKGROUND: Wiskott-Aldrich syndrome verprolin-homologous (WAVE) 3, a member of the WASP/WAVE family of proteins, plays a critical role in cell motility and acts as an oncogene in some human cancers, but no sufficient information available to illustrate its involvement in ovarian cancer tumorigenesis and progression. METHODS: The expression of WAVE3 in human ovarian cancer and normal tissue was analyzed by immunohistochemistry. WAVE3 gene and protein expression in different human ovarian cancer cell lines was tested by RT-PCR and western blotting...
June 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28474594/un-manipulated-haploidentical-transplant-in-wiskott-aldrich-syndrome
#14
M Joseph John, Chepsy C Philip, Amrith Mathew, Abhilasha Williams, Naveen Kakkar
BACKGROUND: Allogeneic stem cell transplant is the only curative treatment for Wiskott-Aldrich syndrome. CASE CHARACTERISTICS: 18-months-old boy with no sibling, cord blood or matched unrelated donor transplant options. OUTCOME: Doing well 7 years after haplo-identical stem cell transplantation using unmanipulated bone marrow as the stem cell source. MESSAGE: Father as a haplo-identical donor is a feasible option.
April 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28457011/diagnosis-of-inherited-platelet-disorders-on-a-blood-smear-a-tool-to-facilitate-worldwide-diagnosis-of-platelet-disorders
#15
A Greinacher, A Pecci, S Kunishima, K Althaus, P Nurden, C L Balduini, T Bakchoul
Essentials There are many hereditary platelet disorders (HPD) but diagnosing these is challenging. We provide a method to diagnose several HPDs using standard blood smears requiring < 100 µL blood. By this approach, the underlying cause of HPD was characterized in ~25-30% of referred individuals. The method facilitates diagnosis of HPD for patients of all ages around the world. SUMMARY: Background Many hereditary thrombocytopenias and/or platelet function disorders have been identified, but diagnosis of these conditions remains challenging...
April 29, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28404538/haematopoietic-stem-cell-transplantation-in-primary-immunodeficiency-patients-in-the-black-sea-region-of-turkey
#16
Alişan Yıldıran, Mehmet Halil Çeliksoy, Stephan Borte, Şükrü Nail Güner, Murat Elli, Tunç Fışgın, Emel Özyürek, Recep Sancak, Gönül Oğur
OBJECTIVE: Haematopoietic stem cell transplantation is a promising curative therapy for many combined primary immunodeficiencies and phagocytic disorders. MATERIALS AND METHODS: We retrospectively reviewed paediatric cases that were diagnosed with primary immunodeficiencies and scheduled for haematopoietic stem cell transplantation. RESULTS: We identified 22 patients (median age, 6 months; age range, 1 month to 10 years) with various diagnoses who received haematopoietic stem cell transplantation...
April 13, 2017: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/28400082/immune-dysregulation-in-immunodeficiency-disorders-the-role-of-t-cell-receptor-sequencing
#17
REVIEW
Gabriel K Wong, James M Heather, Sara Barmettler, Mark Cobbold
Immune dysregulation is a prominent feature of primary immunodeficiency disorders, which commonly manifested as autoimmunity, cytopenias and inflammatory bowel disease. In partial T-cell immunodeficiency disorders, it has been proposed that the imbalance between effector and regulatory T-cells drives the breakdown of peripheral tolerance. While there is no robust test for immune dysregulation, the T-cell receptor repertoire is used as a surrogate marker, and has been shown to be perturbed in a number of immunodeficiency disorders featuring immune dysregulation including Omenn's Syndrome, Wiskott-Aldrich Syndrome, and common variable immunodeficiency...
April 8, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28368018/loss-of-the-arp2-3-complex-component-arpc1b-causes-platelet-abnormalities-and-predisposes-to-inflammatory-disease
#18
Walter H A Kahr, Fred G Pluthero, Abdul Elkadri, Neil Warner, Marko Drobac, Chang Hua Chen, Richard W Lo, Ling Li, Ren Li, Qi Li, Cornelia Thoeni, Jie Pan, Gabriella Leung, Irene Lara-Corrales, Ryan Murchie, Ernest Cutz, Ronald M Laxer, Julia Upton, Chaim M Roifman, Rae S M Yeung, John H Brumell, Aleixo M Muise
Human actin-related protein 2/3 complex (Arp2/3), required for actin filament branching, has two ARPC1 component isoforms, with ARPC1B prominently expressed in blood cells. Here we show in a child with microthrombocytopenia, eosinophilia and inflammatory disease, a homozygous frameshift mutation in ARPC1B (p.Val91Trpfs*30). Platelet lysates reveal no ARPC1B protein and greatly reduced Arp2/3 complex. Missense ARPC1B mutations are identified in an unrelated patient with similar symptoms and ARPC1B deficiency...
April 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/28351346/neural-wiskott-aldrich-syndrome-protein-nwasp-is-implicated-in-human-lung-cancer-invasion
#19
Bethan A Frugtniet, Tracey A Martin, Lijian Zhang, Wen G Jiang
Lung cancer is one of the most commonly diagnosed cancers with survival much lower in patients diagnosed with distal metastases. It is therefore imperative to identify pathways involved in lung cancer invasion and metastasis and to consider the therapeutic potential of agents that can interfere with these molecular pathways. This study examines nWASP expression in human lung cancer tissues and explores the effect of nWASP inhibition and knockdown on lung cancer cell behaviour. METHODS: QPCR has been used to measure nWASP transcript expression in human lung cancer tissues...
March 28, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28344987/safe-and-effective-gene-therapy-for-murine-wiskott-aldrich-syndrome-using-an-insulated-lentiviral-vector
#20
Swati Singh, Iram Khan, Socheath Khim, Brenda Seymour, Karen Sommer, Matthew Wielgosz, Zachary Norgaard, Hans-Peter Kiem, Jennifer Adair, Denny Liggitt, Arthur Nienhuis, David J Rawlings
Wiskott-Aldrich syndrome (WAS) is a life-threatening immunodeficiency caused by mutations within the WAS gene. Viral gene therapy to restore WAS protein (WASp) expression in hematopoietic cells of patients with WAS has the potential to improve outcomes relative to the current standard of care, allogeneic bone marrow transplantation. However, the development of viral vectors that are both safe and effective has been problematic. While use of viral transcriptional promoters may increase the risk of insertional mutagenesis, cellular promoters may not achieve WASp expression levels necessary for optimal therapeutic effect...
March 17, 2017: Molecular Therapy. Methods & Clinical Development
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