3,251 results match your criteria Wiskott-Aldrich Syndrome
Acta Med Okayama 2018 Jun;72(3):301-307
Department of Nephrology, Rheumatology, Endocrinology and Metabolism, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan.
Renal involvement is occasionally observed in Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT). It has been reported that galactose-deficient IgA is a closely linked to IgA nephropathy (IgAN), suggesting that patients with XLT/WAS associated with reduced galactosylation on serum IgA are susceptible to IgAN. It is necessary to pay more attention to patients with IgAN due to the potential complication with XLT/WAS. Read More
Nat Commun 2018 Jun 18;9(1):2377. Epub 2018 Jun 18.
Office of the Dean and the Cancer Center, Long School of Medicine, University of Texas Health Science Center, San Antonio, TX, 78229, USA.
The transition of hematopoiesis from the fetal liver (FL) to the bone marrow (BM) is incompletely characterized. We demonstrate that the Wiskott-Aldrich syndrome verprolin-homologous protein (WAVE) complex 2 is required for this transition, as complex degradation via deletion of its scaffold Hem-1 causes the premature exhaustion of neonatal BM hematopoietic stem cells (HSCs). This exhaustion of BM HSC is due to the failure of BM engraftment of Hem-1 FL HSCs, causing early death. Read More
Elife 2018 Jun 18;7. Epub 2018 Jun 18.
Center for Comparative Biomedicine, Shanghai Jiao Tong University, Shanghai, China.
Diverse clustered protocadherins are thought to function in neurite morphogenesis and neuronal connectivity in the brain. Here we report that the protocadherin alpha () gene cluster regulates neuronal migration during cortical development and cytoskeletal dynamics in primary cortical culture through the WAVE (Wiskott-Aldrich syndrome family verprolin homologous protein, also known as WASP or Wasf) complex. In addition, overexpression of proline-rich tyrosine kinase 2 (Pyk2, also known as Ptk2b, Cakb, Raftk, Fak2, and Cadtk), a non-receptor cell-adhesion kinase and scaffold protein downstream of Pcdha, impairs cortical neuron migration via inactivation of the small GTPase Rac1. Read More
Int J Oncol 2018 May 25. Epub 2018 May 25.
Department of Pancreato-Biliary Surgery, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong 510080, P.R. China.
Alterations in Wiskott-Aldrich syndrome protein family verprolin-homologous protein 3 (WAVE3) expression play various roles in certain types of cancer. However, the roles of WAVE3 expression in pancreatic cancer remain unknown. The present retrospective study demonstrated that WAVE3 expression was higher in cancerous pancreatic tissues than in non-neoplastic tissues. Read More
Yi Chuan 2018 May;40(5):390-401
Key Laboratory of Systems Biomedicine (Ministry of Education), Center for Comparative Biomedicine, Institute of Systems Biomedicine, Shanghai Jiao Tong University, Shanghai 200240, China.
Cortical neuron migration in the developing mouse forebrain is a complex process, which contains several steps related to cytoskeleton dynamics and remodeling. Neural Wiskott-Aldrich syndrome protein (N-WASP), a member of the WASP-WAVE family, regulates actin cytoskeleton reorganization through the binding of its VCA domain to the Arp2/3 complex. Here we report expression patterns of N-WASP gene in the mouse developing embryonic cortex (E12. Read More
J Immunol 2018 Jun;200(11):3671-3680
J Immunol 2018 Jun;200(11):3667-3670
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030; and Center for Human Immunobiology, Texas Children's Hospital, Houston, TX 77030
Pediatr Transplant 2018 May 15:e13222. Epub 2018 May 15.
Division of Pediatric Hematology Oncology, Children's Hospital of Michigan, Detroit, MI, USA.
WAS is a fatal X-linked combined immunodeficiency syndrome, the only cures for which are HSCT or gene therapy. AID occur in up to 72% of patients with WAS who do not receive HSCT, likely arising secondary to impaired multilineage immune autoregulatory function; AITD is not typically seen. In this article, we describe the case of a male patient who underwent HLA-matched HSCT for WAS at the age of 5 months, with his sister (a WAS carrier) acting as his donor and subsequently developed AITD 12 months post-transplant, with marked elevation of antithyroid peroxidase antibody titer. Read More
Proc Natl Acad Sci U S A 2018 May 14;115(22):E5164-E5173. Epub 2018 May 14.
Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada;
Leucine-rich repeat kinase 2 () has been implicated in both familial and sporadic Parkinson's disease (PD), yet its pathogenic role remains unclear. A previous screen in identified Scar/WAVE (Wiskott-Aldrich syndrome protein-family verproline) proteins as potential genetic interactors of Here, we provide evidence that LRRK2 modulates the phagocytic response of myeloid cells via specific modulation of the actin-cytoskeletal regulator, WAVE2. We demonstrate that macrophages and microglia from PD patients and mice display a WAVE2-mediated increase in phagocytic response, respectively. Read More
Biol Blood Marrow Transplant 2018 May 9. Epub 2018 May 9.
Division of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, Missouri. Electronic address:
J Physiol 2018 May 10. Epub 2018 May 10.
Dept. of Cellular & Integrative Physiology, Indiana University School of Medicine, Indianapolis, IN.
Key Points: The mechanisms by which Rho kinase (ROCK) regulates airway smooth muscle contraction were determined in tracheal smooth muscle tissues. ROCK may mediate smooth muscle contraction by inhibiting myosin regulatory light chain (RLC) phosphatase. ROCK can also regulate F-actin dynamics during cell migration, and actin polymerization is critical for airway smooth muscle contraction. Read More
Pediatr Blood Cancer 2018 May 10:e27092. Epub 2018 May 10.
Department of Hematology and Oncology, Hospital of Capital Institute of Pediatrics, Beijing, China.
Background: Hematopoietic stem cell transplantation (HSCT) is the curative treatment for Wiskott-Aldrich syndrome (WAS). However, it is difficult to find a matched donor for patients. Therefore, haploidentical donors should be considered for patients lacking a suitable donor. Read More
Curr Biol 2018 May 3;28(10):1536-1547.e9. Epub 2018 May 3.
Department of Chemistry and Biochemistry, The Ohio State University, Columbus, OH 43210, USA; Ohio State Biochemistry Program, The Ohio State University, Columbus, OH 43210, USA; Infectious Diseases Institute, The Ohio State University, Columbus, OH 43210, USA. Electronic address:
Delivery of bacterial toxins to host cells is hindered by host protective barriers. This obstruction dictates a remarkable efficiency of toxins, a single copy of which may kill a host cell. Efficiency of actin-targeting toxins is further hampered by an overwhelming abundance of their target. Read More
J Allergy Clin Immunol 2018 May 3. Epub 2018 May 3.
Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Nat Commun 2018 May 3;9(1):1779. Epub 2018 May 3.
Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA.
Mutations in Wiskott-Aldrich syndrome protein (WASP) cause autoimmune sequelae including colitis. Yet, how WASP mediates mucosal homeostasis is not fully understood. Here we show that WASP-mediated regulation of anti-inflammatory macrophages is critical for mucosal homeostasis and immune tolerance. Read More
J Cell Sci 2018 Jun 6;131(11). Epub 2018 Jun 6.
School of Biochemistry, Biomedical Sciences Building, University of Bristol, Bristol BS8 1TD, UK
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic human disease, with around 12.5 million people affected worldwide. ADPKD results from mutations in either or , which encode the atypical G-protein coupled receptor polycystin-1 (PC1) and the transient receptor potential channel polycystin-2 (PC2), respectively. Read More
Vox Sang 2018 Apr 20. Epub 2018 Apr 20.
Section of Immunology, Allergy and Rheumatology, Texas Children's Hospital, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Background And Objectives: Our research aim is to model latent therapeutic demand (LTD) for the immunoglobulin replacement therapy (IgGRT) of primary immune deficiency disorders (PIDDs) in the USA. Given the high level of variability of IgGRT use and major differences among American and European practices in the management of patients with PIDDs, we develop a USA-specific LTD model for common variable immune deficiency (CVID), hyper IGM syndrome, severe combined immune deficiency, Wiskott-Aldrich syndrome and X-linked agammaglobulinemia (XLA).
Methods And Materials: We use decision analysis methods to model the underlying IgGRT demand for PIDDs by assessing USA-specific epidemiology and treatment. Read More
Cell Mol Gastroenterol Hepatol 2018 Mar 15;5(3):273-288. Epub 2017 Dec 15.
Division of Gastroenterology/Nutrition and Center for Inflammatory Bowel Disease Treatment and Research, Boston Children's Hospital, Boston, Massachusetts.
Background & Aims: Neural Wiskott-Aldrich Syndrome protein (N-WASP) is a key regulator of the actin cytoskeleton in epithelial tissues and is poised to mediate cytoskeletal-dependent aspects of apical junction complex (AJC) homeostasis. Attaching-and-effacing (AE) pathogens disrupt this homeostasis through translocation of the effector molecule early secreted antigenic target-6 (ESX)-1 secretion-associated protein F (EspF). Although the mechanisms underlying AJC disruption by EspF are unknown, EspF contains putative binding sites for N-WASP and the endocytic regulator sorting nexin 9 (SNX9). Read More
Neuron 2018 Apr;98(2):320-334.e6
Institute of Molecular Medicine, National Taiwan University College of Medicine, Taipei 10002, Taiwan. Electronic address:
Self-avoidance allows sister dendrites from the same neuron to form non-redundant coverage of the sensory territory and is important for neural circuitry functions. Here, we report an unexpected, cell-autonomous role of the Wnt-secretory factor MIG-14/Wntless in mediating dendrite self-avoidance in the C. elegans multidendritic PVD neurons. Read More
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Apr;35(2):207-209
Medical Genetics Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China.
Objective: To detect potential mutation of the WAS gene in a Chinese family affected with Wiskott-Aldrich syndrome.
Methods: Peripheral blood samples were collected from the proband and his family members. All exons and flanking regions of the WAS gene were subjected to PCR amplification - Sanger sequencing as well as restriction endonuclease analysis. Read More
Cell Physiol Biochem 2018 29;46(2):757-764. Epub 2018 Mar 29.
Background/aims: This study aims to explore the effects of microRNA-214-5p (miR-214-5p) on the invasion and migration of Hepatocellular Carcinoma cells (HCC).
Methods: Hepatocellular Carcinoma tissues and adjacent normal tissues from 44 hepatocellular carcinoma patients were prepared for this study. The HepG2 and BEL-7402 cells were transfected with miR-214-5p mimic and inhibitor. Read More
Appl Environ Microbiol 2018 Jun 17;84(11). Epub 2018 May 17.
Institute of Medical Microbiology, University of Zürich, Zürich, Switzerland
The ubiquitous environmental bacterium survives and replicates within amoebae and human macrophages by forming a -containing vacuole (LCV). In an intricate process governed by the bacterial Icm/Dot type IV secretion system and a plethora of effector proteins, the nascent LCV interferes with a number of intracellular trafficking pathways, including retrograde transport from endosomes to the Golgi apparatus. Conserved retrograde trafficking components, such as the retromer coat complex or the phosphoinositide (PI) 5-phosphatase 5-phosphatase 4 (Dd5P4)/oculocerebrorenal syndrome of Lowe (OCRL), restrict intracellular replication of by an unknown mechanism. Read More
Cogn Behav Neurol 2018 Mar;31(1):13-17
Department of Psychology, The Hospital for Sick Children, Toronto, Ontario, Canada.
We report the neuropsychological profile of a 6-year-old girl with Wiskott-Aldrich syndrome, a rare X-linked immunodeficiency disorder associated with thrombocytopenia, eczema, recurrent infections, and malignancy. Wiskott-Aldrich syndrome occurs almost exclusively in males and is extremely rare in females, with no known research focused on cognitive and academic functioning in this population. Our patient was referred due to concerns about her memory and academic functioning. Read More
Biol Blood Marrow Transplant 2018 Mar 14. Epub 2018 Mar 14.
Department of Hematopoietic Stem Cell Transplantation, Dmitriy Rogachev National Center for Pediatric Hematology, Oncology, and Immunology, Moscow, Russia.
Our initial experience with hematopoietic stem cell transplantation (HSCT) from a matched unrelated donor (MUD; n = 12) or a haploidentical related donor (n = 6) with T cell receptor (TCR)αβ/CD19 graft depletion in patients with Wiskott-Aldrich syndrome (WAS) (n = 18) showed a dramatic decrease in the incidence of graft-versus-host disease (GVHD) and transplantation-related mortality, with an increased overall survival (OS) of 88.9%. Unfortunately, the treatment was associated with mixed myeloid donor chimerism and secondary graft dysfunction (severe thrombocytopenia, n = 2; graft rejection, n = 5). Read More
J Cell Sci 2018 Apr 13;131(8). Epub 2018 Apr 13.
Basic Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA 98109
WASH, a Wiskott-Aldrich syndrome (WAS) family protein, has many cell and developmental roles related to its function as a branched actin nucleation factor. Similar to mammalian WASHC1, which is embryonic lethal, Wash was found to be essential for oogenesis and larval development. Recently, however, was reported to be homozygous viable. Read More
Blood Adv 2018 Feb;2(4):401-413
Chongqing Key Laboratory of Child Infection and Immunity.
Dock8 deficiency leads to immunodeficiency, and the role of Dock8 in B-cell development and function has been revealed; however, the role of DocK8 on B-cell receptor (BCR) signaling and function of memory B cells remains elusive. In this study, we generated a Dock8 knockout mouse model and collected peripheral blood mononuclear cells from Dock8 patients to study the effect of Dock8 deficiency on the BCR signaling and activation of memory B cells with confocal microscopy and total internal reflection fluorescence microscopy. The activation of key, positive upstream BCR signaling molecules, pCD19 and phosphorylated Brutons tyrosine kinase (pBtk), is reduced. Read More
J Allergy Clin Immunol 2018 Feb 20. Epub 2018 Feb 20.
Division of Transplant Surgery and Transplantation Surgery Research Laboratory, Brigham and Women's Hospital, Harvard Medical School, Boston, Mass. Electronic address:
Background: Given their unique capacity for antigen uptake, processing, and presentation, antigen-presenting cells (APCs) are critical for initiating and regulating innate and adaptive immune responses. We have previously shown the role of nicotinamide adenine dinucleotide (NAD) in T-cell differentiation independently of the cytokine milieu, whereas the precise mechanisms remained unknown.
Objective: The objective of this study is to further dissect the mechanism of actions of NAD and determine the effect of APCs on NAD-mediated T-cell activation. Read More
Cytotechnology 2018 Apr 17;70(2):593-601. Epub 2018 Feb 17.
Department of Emergency Medicine, San Er Ling Yi Hospital, 783, Tian Han Road, Hanzhong City, 72300, Shanxi Province, China.
Breast tumour progression results from the advancement of the disease to a metastatic phenotype. Rac1 and Cdc42 belong to the Rho family of genes that, together with their downstream effectors, Wiskott-Aldrich Syndrome protein-family verprolin-homologous protein 2 (WAVE2) and Arp2/3, assume a vital part in cytoskeletal rearrangement and the arrangement of film projections that advance malignant cell relocation and invasion. Mangiferin is a characteristic polyphenolic compound from Mangifera indica L. Read More
J Allergy Clin Immunol 2018 Feb 13. Epub 2018 Feb 13.
International Centre for Genetic Engineering and Biotechnology, Trieste, Italy. Electronic address:
Background: Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficiency caused by mutations in Wiskott-Aldrich syndrome protein (WASp), a key regulator of cytoskeletal dynamics in hematopoietic cells. A high proportion of patients experience autoimmunity caused by a breakdown in T- and B-cell tolerance. Moreover, excessive production of type I interferon (IFN-I) by plasmacytoid dendritic cells (pDCs) contributes to autoimmune signs; however, the factors that trigger excessive innate activation have not been defined. Read More
J Allergy Clin Immunol 2018 Feb 6. Epub 2018 Feb 6.
San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; Milan Unit, Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Milan, Italy. Electronic address:
Background: Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by eczema, infections, and susceptibility to autoimmunity and malignancies. Thrombocytopenia is a constant finding, but its pathogenesis remains elusive.
Objective: To dissect the basis of the WAS platelet defect, we used a novel conditional mouse model (CoWas) lacking Wiskott-Aldrich syndrome protein (WASp) only in the megakaryocytic lineage in the presence of a normal immunologic environment, and in parallel we analyzed samples obtained from patients with WAS. Read More
Kaohsiung J Med Sci 2018 Feb 3;34(2):122-123. Epub 2017 Oct 3.
Department of Pediatrics, Kaohsiung Veterans General Hospital, Division of Pediatric Hematology, Taiwan.
PLoS Comput Biol 2018 02 5;14(2):e1005972. Epub 2018 Feb 5.
Theoretical Biology and Biophysics Group, Los Alamos National Laboratory, New Mexico, United States of America.
Mycolactone is the exotoxin produced by Mycobacterium ulcerans and is the virulence factor behind the neglected tropical disease Buruli ulcer. The toxin has a broad spectrum of biological effects within the host organism, stemming from its interaction with at least two molecular targets and the inhibition of protein uptake into the endoplasmic reticulum. Although it has been shown that the toxin can passively permeate into host cells, it is clearly lipophilic. Read More
Dev Cell 2018 02 27;44(4):471-483.e4. Epub 2018 Jan 27.
Tufts University School of Medicine, Department of Developmental, Molecular & Chemical Biology, Program in Cell, Molecular and Developmental Biology and Program in Genetics, 150 Harrison Avenue, Jaharis 322, Boston, MA 02111, USA. Electronic address:
Contractile forces eliminate cell contacts in many morphogenetic processes. However, mechanisms that balance contractile forces to promote subtler remodeling remain unknown. To address this gap, we investigated remodeling of Drosophila eye lattice cells (LCs), which preserve cell contacts as they narrow to form the edges of a multicellular hexagonal lattice. Read More
Proc Natl Acad Sci U S A 2018 Feb 31;115(7):E1409-E1418. Epub 2018 Jan 31.
Institute of Molecular Biology, University of Oregon, Eugene, OR 97403;
Arp2/3 complex nucleates branched actin filaments important for cellular motility and endocytosis. WASP family proteins are Arp2/3 complex activators that play multiple roles in branching nucleation, but little is known about the structural bases of these WASP functions, owing to an incomplete understanding of how WASP binds Arp2/3 complex. Recent data show WASP binds two sites, and biochemical and structural studies led to models in which the WASP C segment engages the barbed ends of the Arp3 and Arp2 subunits while the WASP A segment binds the back side of the complex on Arp3. Read More
Cell Rep 2018 Jan 28;22(4):979-991. Epub 2018 Jan 28.
INSERM, UMR 1043, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France; Université Toulouse III Paul Sabatier, Toulouse, France; CNRS, UMR 5282, Toulouse, France. Electronic address:
T lymphocyte cytotoxicity relies on a synaptic ring of lymphocyte function-associated antigen 1 (LFA-1), which permits polarized delivery of lytic granules. How LFA-1 organization is controlled by underlying actin cytoskeleton dynamics is poorly understood. Here, we explored the contribution of the actin cytoskeleton regulator WASP to the topography of LFA-1 using a combination of microscopy modalities. Read More
Palliat Support Care 2018 Jun 30;16(3):367-370. Epub 2018 Jan 30.
Memorial Sloan Kettering Cancer Center,New York, New York.
ABSTRACTObjective:Pediatric bone marrow transplants represent a medically stressful, potentially traumatic experience for children and caregivers, and psychological support for parental caregivers is paramount to their long-term well-being. However, many medical centers do not have protocols in place to sustain caregiver well-being during these distressing experiences.
Method: We report on a case of a 10-month-old infant with Wiskott Aldrich Syndrome who was hospitalized for bone marrow transplantation. Read More
World J Gastroenterol 2017 Dec;23(48):8544-8552
Department of Pediatrics, Yokohama City University, Yokohama, Kanagawa 236-004, Japan.
Aim: To screen primary immunodeficiency, Wiskott-Aldrich syndrome (WAS), and chronic granulomatous disease (CGD) among children with inflammatory bowel disease (IBD).
Methods: This was a single-center retrospective study. Eighteen children with IBD were investigated. Read More
SAGE Open Med Case Rep 2018 9;6:2050313X17753788. Epub 2018 Jan 9.
Department of Pediatrics, Showa University Fujigaoka Hospital, Yokohama, Japan.
Wiskott-Aldrich syndrome is a rare X-linked recessive disease resulting from variations in the WAS gene. Wiskott-Aldrich syndrome is sometimes difficult to differentiate from immune thrombocytopenic purpura. A 2-month-old boy was admitted to our hospital for purpura and thrombocytopenia. Read More
Elife 2018 01 16;7. Epub 2018 Jan 16.
Lymphocyte Biology Laboratory, The Francis Crick Institute, London, United Kingdom.
Wiskott-Aldrich syndrome (WAS) is an immune pathology associated with mutations in WAS protein (WASp) or in WASp interacting protein (WIP). Together with the small GTPase Cdc42 and other effectors, these proteins participate in the remodelling of the actin network downstream of BCR engagement. Here we show that mice lacking the adaptor protein ITSN2, a G-nucleotide exchange factor (GEF) for Cdc42 that also interacts with WASp and WIP, exhibited increased mortality during primary infection, incomplete protection after Flu vaccination, reduced germinal centre formation and impaired antibody responses to vaccination. Read More
Hum Mutat 2018 Apr 19;39(4):579-587. Epub 2018 Jan 19.
Laboratory of Onco-Hematology, Department of Women's and Children's Health, University of Padova, Padova, Italy.
The WAS gene product is expressed exclusively in the cytoplasm of hematopoietic cells and constitutional genetic abrogation of WASP leads to Wiskott-Aldrich syndrome (WAS). Moreover, mutational activation of WASP has been associated with X-linked neutropenia. Although studies reported that patients with constitutional WAS mutations affecting functional WASP expression may present juvenile myelomonocytic leukemia (JMML)-like features, confounding differential diagnosis above all in the copresence of mutated RAS, an activating somatic mutation of WASP has not been previously described in JMML patients. Read More
Eur J Cardiothorac Surg 2018 Jun;53(6):1286-1287
Department of Thoracic Surgery, Kyoto University, Sakyo-ku, Kyoto, Japan.
The authors report the first case involving a patient with Wiskott-Aldrich syndrome who underwent single living-donor lobar lung transplantation after haematopoietic stem cell transplantation. Haematopoietic stem cell transplantation was performed at 1 year of age; however, he developed severe pulmonary complications. Although lung transplantation is generally contraindicated in patients with immunodeficiency disease, the patient was able to undergo living-donor lobar lung transplantation because his immunodeficiency and thrombocytopenia were well controlled as a result of haematopoietic stem cell transplantation. Read More
Expert Rev Clin Immunol 2018 Feb 16;14(2):103-114. Epub 2018 Jan 16.
a Institute of Cellular Medicine , Newcastle University , Newcastle Upon Tyne , UK.
Introduction: Hematopoietic stem cell transplantation (HSCT) is an established curative treatment for many primary immunodeficiencies. Advances in donor selection, graft manipulation, conditioning and treatment of complications, mean that survival for many conditions is now around 90%. Next generation sequencing is identifying new immunodeficiencies, many of which are treatable with HSCT. Read More
J Allergy Clin Immunol 2017 Dec 15. Epub 2017 Dec 15.
Division of Pediatric Hematology-Oncology, Carver College of Medicine and the University of Iowa Stead Family Children's Hospital, Iowa City, Md. Electronic address:
Background: Wiskott-Aldrich syndrome (WAS), X-linked thrombocytopenia (XLT), and X-linked neutropenia, which are caused by WAS mutations affecting Wiskott-Aldrich syndrome protein (WASp) expression or activity, manifest in immunodeficiency, autoimmunity, genomic instability, and lymphoid and other cancers. WASp supports filamentous actin formation in the cytoplasm and gene transcription in the nucleus. Although the genetic basis for XLT/WAS has been clarified, the relationships between mutant forms of WASp and the diverse features of these disorders remain ill-defined. Read More
J Cell Biol 2018 Jan 12;217(1):211-230. Epub 2017 Dec 12.
Institute of Biochemistry I, Jena University Hospital/Friedrich-Schiller-University Jena, Jena, Germany
Local actin filament formation powers the development of the signal-receiving arbor of neurons that underlies neuronal network formation. Yet, little is known about the molecules that drive these processes and may functionally connect them to the transient calcium pulses observed in restricted areas in the forming dendritic arbor. Here we demonstrate that Cordon-Bleu (Cobl)-like, an uncharacterized protein suggested to represent a very distantly related, evolutionary ancestor of the actin nucleator Cobl, despite having only a single G-actin-binding Wiskott-Aldrich syndrome protein Homology 2 (WH2) domain, massively promoted the formation of F-actin-rich membrane ruffles of COS-7 cells and of dendritic branches of neurons. Read More
Platelets 2018 Jun 11;29(4):347-356. Epub 2017 Dec 11.
e Institute of Experimental Biomedicine , University Hospital Würzburg , Würzburg , Germany.
A high proportion of patients with mucocutaneous bleeding diathesis and suspected inherited or acquired platelet disorder remain without diagnosis even after comprehensive laboratory testing. Since flow cytometry allows investigation of resting and activated platelets on the single cell level by requiring only minimal amounts of blood, this method has become an important assay within the diagnostic algorithm, especially in pediatrics. We therefore developed a standardized and modular flow cytometric approach that contributes to clarify impaired platelet function in a rational step-by-step manner. Read More
ACS Chem Biol 2018 01 7;13(1):100-109. Epub 2017 Dec 7.
Department of Chemistry, and ‡Mina and Everard Goodman Faculty of Life Sciences, Bar Ilan University , Ramat Gan, 52900, Israel.
Wiskott-Aldrich syndrome protein (WASp) is exclusively expressed in hematopoietic cells and responsible for actin-dependent processes, including cellular activation, migration, and invasiveness. The C-terminal domain of WASp-Interacting Protein (WIP) binds to WASp and regulates its activity by shielding it from degradation in a phosphorylation dependent manner as we previously demonstrated. Mutations in the WAS-encoding gene lead to the primary immunodeficiencies Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT). Read More
Dermatol Ther 2018 Mar 7;31(2):e12582. Epub 2017 Dec 7.
Unit of Dermatology and Cosmetology, IRCCS University Vita-Salute San Raffaele, Milan, Italy.
Indian Dermatol Online J 2017 Nov-Dec;8(6):391-405
Allergy Immunology Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Primary immunodeficiency disorders (PIDs) are a group of disorders affecting the capability to fight against infection. These include defects in T cells and B cells affecting cell-mediated and humoral immunity, respectively, combined humoral and cell-mediated immunodeficiency, defects in phagocytosis, complement defects, and defects in cytokine or cytokine signalling pathways which are detrimental for immune function. Depending upon the type and severity, age at onset of symptoms can vary from neonatal period to late childhood. Read More
Pediatr Hematol Oncol 2017 Aug 4;34(5):286-291. Epub 2017 Dec 4.
b Yuzuncu Yıl University, School of Medicine, Van , Turkey.
Background: The Wiskott-Aldrich syndrome (WAS) is X-linked recessive disorder associated with microplatelet thrombocytopenia, eczema, infections, and an increased risk of autoimmunity and lymphoid neoplasia. The originally described features of WAS include susceptibility to infections, microthrombocytopenia, and eczema.
Aim: In this case report, we present our experience about two cases diagnosed with a new mutation. Read More