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Zoltan Fehervari
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October 19, 2016: Nature Immunology
Marina Cavazzana, Jean-Antoine Ribeil, Chantal Lagresle-Peyrou, Isabelle André-Schmutz
When considering inherited diseases that can be treated by gene transfer into Hematopoietic stem cells (HSCs), there are only two in which the HSC and progenitor cell distribution inside the bone marrow and its microenvironment are exactly the same as in a healthy subject: metachromatic leukodystrophy (MLD) and ALD. In all other settings (X-linked severe combined immunodeficiency (SCID-X1), adenosine deaminase deficiency, Wiskott-Aldrich syndrome and β-hemoglobinopathies), the bone marrow content of the different stem and precursor cells and the cells' relationship with the stroma have very specific characteristics...
October 17, 2016: Stem Cells and Development
Hamoud Al-Mousa, Abbas Hawwari, Abdulaziz Al-Ghonaium, Bandar Al-Saud, Hasan Al-Dhekri, Saleh Al-Muhsen, Sahar Elshorbagi, Majed Dasouki, Lina El-Baik, Amal Alseraihy, Mouhab Ayas, Rand Arnaout
WIP deficiency causes autosomal recessive Wiskott - Aldrich syndromewith normal platelet mean volume and can be cured with hematopoietic stem cell transplantation from genoidentical related or unrelated umbilical cord.
October 11, 2016: Journal of Allergy and Clinical Immunology
Shohei Iwase, Shoichiro Ono
Cyclase-associated protein (CAP) is a conserved actin-regulatory protein that functions together with actin-depolymerizing factor (ADF)/cofilin to enhance actin filament dynamics. CAP has multiple functional domains, and the function to regulate actin monomers is carried out by its C-terminal half containing a Wiskott-Aldrich Syndrome protein homology 2 (WH2) domain, a CAP and X-linked retinitis pigmentosa 2 (CARP) domain, and a dimerization motif. WH2 and CARP are implicated in binding to actin monomers and important for enhancing filament turnover...
October 11, 2016: Biochemical Journal
Joanna R Watson, Darerca Owen, Helen R Mott
The small GTPase, Cdc42, is a key regulator of actin dynamics, functioning to connect multiple signals to actin polymerization through effector proteins of the Wiskott-Aldrich syndrome protein (WASP) and Transducer of Cdc42-dependent actin assembly (TOCA) families. WASP family members serve to couple Cdc42 with the actin nucleator, the Arp2/3 complex, via direct interactions. The regulation of these proteins in the context of actin dynamics has been extensively studied. Studies on the TOCA family, however, are more limited and relatively little is known about their roles and regulation...
August 11, 2016: Small GTPases
Esmaeil Mortaz, Payam Tabarsi, Davod Mansouri, Adnan Khosravi, Johan Garssen, Aliakbar Velayati, Ian M Adcock
The life span of patients with primary and secondary immunodeficiency is increasing due to recent improvements in therapeutic strategies. While the incidence of primary immunodeficiencies (PIDs) is 1:10,000 births, that of secondary immunodeficiencies are more common and are associated with posttransplantation immune dysfunction, with immunosuppressive medication for human immunodeficiency virus or with human T-cell lymphotropic virus infection. After infection, malignancy is the most prevalent cause of death in both children and adults with (PIDs)...
2016: Frontiers in Immunology
C A Murga-Zamalloa, V Mendoza-Reinoso, A A Sahasrabuddhe, D Rolland, S R Hwang, S R P McDonnell, A P Sciallis, R A Wilcox, V Bashur, K Elenitoba-Johnson, M S Lim
Mechanisms by which NPM-ALK signaling regulates cell migration, invasion and contributes to the oncogenesis of anaplastic large cell lymphoma (ALCL) are not completely understood. In an attempt to identify novel actin signaling pathways regulated by NPM-ALK, a comprehensive phosphoproteome analysis of ALCL cell lines was performed in the presence or absence of NPM-ALK activity. Numerous phosphoproteins involved in actin dynamics including Wiskott-Aldrich syndrome protein (WASp) were regulated by NPM-ALK. Network analysis revealed that WASp is a central component of the NPM-ALK-dependent actin signaling pathway...
October 3, 2016: Oncogene
Alberta Palazzo, Olivier Bluteau, Kahia Messaoudi, Francesco Marangoni, Yunhua Chang, Sylvie Souquere, Gérard Pierron, Valérie Lapierre, Yi Zheng, William Vainchenker, Hana Raslova, Najet Debili
BACKGROUND: Cytoskeleton rearrangements are essential in platelet release. The RHO small GTPase family, as regulators of the actin cytoskeleton, plays an important function in proplatelet formation. In the neuronal system, CDC42 is involved in the axone formation, a process that combined elongation and branching as proplatelet formation. OBJECTIVE: To analyze the role of CDC42 and its effectors of the WASP family on proplatelet formation METHODS: Human MKs were obtained from CD34(+) cells...
September 29, 2016: Journal of Thrombosis and Haemostasis: JTH
Dimitri Poddighe, Elena Virginia, Marco Nedbal, Annarosa Soresina, Paola Bruni
A male newborn developed a post-natal cytomegalovirus (CMV) infection, arising in the clinical setting of congenital thrombocytopenia, which was diagnosed as being alloimmune. The evidence of active CMV infection in an infant showing slow-resolution lower airways infection, persistent neonatal and low platelet volume thrombocytopenia, and diffuse eczema (associated to very high levels of serum immunoglobulin E) led to the diagnosis of Wiskott-Aldrich syndrome (WAS) before the third month of life, despite the presence of several confounding clinical factors...
September 1, 2016: Le Infezioni in Medicina
Willem S Lexmond, Jeremy A Goettel, Jonathan J Lyons, Justin Jacobse, Marion M Deken, Monica G Lawrence, Thomas H DiMaggio, Daniel Kotlarz, Elizabeth Garabedian, Paul Sackstein, Celeste C Nelson, Nina Jones, Kelly D Stone, Fabio Candotti, Edmond H H M Rings, Adrian J Thrasher, Joshua D Milner, Scott B Snapper, Edda Fiebiger
In addition to the infectious consequences of immunodeficiency, patients with Wiskott-Aldrich syndrome (WAS) often suffer from poorly understood exaggerated immune responses that result in autoimmunity and elevated levels of serum IgE. Here, we have shown that WAS patients and mice deficient in WAS protein (WASP) frequently develop IgE-mediated reactions to common food allergens. WASP-deficient animals displayed an adjuvant-free IgE-sensitization to chow antigens that was most pronounced for wheat and soy and occurred under specific pathogen-free as well as germ-free housing conditions...
October 3, 2016: Journal of Clinical Investigation
Yun Liang, Johann E Gudjonsson
Dysregulation of the type 2 immune system presents with various manifestations, including allergic inflammation, and has emerged as an alarming public health issue. The pathological mechanisms that underlie T helper type 2 cell-driven (Th2-driven) allergic diseases remain unclear. In particular, it is not completely understood how type 2 immunity is restricted in inflammatory responses. In this issue of the JCI, Lexmond et al. use Wiskott-Aldrich syndrome as a model disease and establish that the Wiskott-Aldrich gene product (WASP) serves an essential role in T regulatory cells to contain Th2 effector cell differentiation and prevent allergic sensitization to dietary antigens...
October 3, 2016: Journal of Clinical Investigation
Marco Piccinini, Joel Cugnoni, John Botsis, Patrick Ammann, Anselm Wiskott
Long term durability of osseointegrated implants depends on bone adaptation to stress and strain occurring in proximity of the prosthesis. Mechanical overloading, as well as disuse, may reduce the stability of implants by provoking bone resorption. However, an appropriate mechanical environment can improve integration. Several studies have focused on the definition of numerical methods to predict bone peri-implant adaptation to the mechanical environment. Existing adaptation models differ notably in the type of mechanical variable adopted as stimulus but also in the bounds and shape of the adaptation rate equation...
September 15, 2016: Medical Engineering & Physics
Tatiana B Stanishneva-Konovalova, Charlotte F Kelley, Tania L Eskin, Emily M Messelaar, Steven A Wasserman, Olga S Sokolova, Avital A Rodal
Membrane remodeling by Fes/Cip4 homology-Bin/Amphiphysin/Rvs167 (F-BAR) proteins is regulated by autoinhibitory interactions between their SRC homology 3 (SH3) and F-BAR domains. The structural basis of autoregulation, and whether it affects interactions of SH3 domains with other cellular ligands, remain unclear. Here we used single-particle electron microscopy to determine the structure of the F-BAR protein Nervous Wreck (Nwk) in both soluble and membrane-bound states. On membrane binding, Nwk SH3 domains do not completely dissociate from the F-BAR dimer, but instead shift from its concave surface to positions on either side of the dimer...
September 20, 2016: Proceedings of the National Academy of Sciences of the United States of America
Erin Janssen, Mira Tohme, Mona Hedayat, Marion Leick, Sudha Kumari, Narayanaswamy Ramesh, Michel J Massaad, Sumana Ullas, Veronica Azcutia, Christopher C Goodnow, Katrina L Randall, Qi Qiao, Hao Wu, Waleed Al-Herz, Dianne Cox, John Hartwig, Darrell J Irvine, Francis W Luscinskas, Raif S Geha
Wiskott-Aldrich syndrome (WAS) is associated with mutations in the WAS protein (WASp), which plays a critical role in the initiation of T cell receptor-driven (TCR-driven) actin polymerization. The clinical phenotype of WAS includes susceptibility to infection, allergy, autoimmunity, and malignancy and overlaps with the symptoms of dedicator of cytokinesis 8 (DOCK8) deficiency, suggesting that the 2 syndromes share common pathogenic mechanisms. Here, we demonstrated that the WASp-interacting protein (WIP) bridges DOCK8 to WASp and actin in T cells...
October 3, 2016: Journal of Clinical Investigation
Pandiarajan Vignesh, Deepti Suri, Amit Rawat, Yu Lung Lau, Anmol Bhatia, Ashim Das, Anirudh Srinivasan, Sivashanmugam Dhandapani
Patients with Wiskott-Aldrich syndrome (WAS) are predisposed to malignancy and autoimmunity in addition to infections. We report a male child with WAS, who had presented with recurrent pneumonia, eczema, thrombocytopenia, autoimmune hemolytic anemia, and vasculitic skin lesions. Genetic analysis revealed a classical genotype WAS 155C>T; R41X. At 2 years of follow-up, he developed persistent headache and progressive hepatomegaly. Brain imaging showed a mass in the right frontal region, which on histopathology was shown to be high-grade non-Hodgkin lymphoma...
August 27, 2016: Pediatric Blood & Cancer
Marguerite R Kelher, Nathan J D McLaughlin, Anirban Banerjee, David J Elzi, Fabia Gamboni, Samina Y Khan, Xianzhong Meng, Sanchayita Mitra, Christopher C Silliman
Lysophosphatidylcholines (lysoPCs) are effective polymorphonuclear neutrophil (PMN) priming agents implicated in transfusion-related acute lung injury (TRALI). LysoPCs cause ligation of the G2A receptor, cytosolic Ca(2+) flux, and activation of Hck. We hypothesize that lysoPCs induce Hck-dependent activation of protein kinase C (PKC), resulting in phosphorylation and membrane translocation of 47 kDa phagocyte oxidase protein (p47(phox)). PMNs, human or murine, were primed with lysoPCs and were smeared onto slides and examined by digital microscopy or separated into subcellular fractions or whole-cell lysates...
August 16, 2016: Journal of Leukocyte Biology
Jesper Johansen, Gabriel Alfaro, Christopher T Beh
Polarized growth is maintained by both polarized exocytosis, which transports membrane components to specific locations on the cell cortex, and endocytosis, which retrieves these components before they can diffuse away. Despite functional links between these two transport pathways, they are generally considered to be separate events. Using live cell imaging, in vivo and in vitro protein binding assays, and in vitro pyrene-actin polymerization assays, we show that the yeast Rab GTPase Sec4p couples polarized exocytosis with cortical actin polymerization, which induces endocytosis...
August 2016: PLoS Biology
Sachin Suresh Tiwari, Keiko Mizuno, Anshua Ghosh, Wajeeha Aziz, Claire Troakes, Jason Daoud, Vidushi Golash, Wendy Noble, Tibor Hortobágyi, Karl Peter Giese
Characteristic features of Alzheimer's disease are memory loss, plaques resulting from abnormal processing of amyloid precursor protein (APP), and presence of neurofibrillary tangles and dystrophic neurites containing hyperphosphorylated tau. Currently, it is not known what links these abnormalities together. Cytoplasmic FMR1 interacting protein 2 (CYFIP2) has been suggested to regulate mRNA translation at synapses and this may include local synthesis of APP and alpha-calcium/calmodulin-dependent kinase II, a kinase that can phosphorylate tau...
October 2016: Brain: a Journal of Neurology
Fabio Candotti
In the recent past, the gene therapy field has witnessed a remarkable series of successes, many of which have involved primary immunodeficiency diseases, such as X-linked severe combined immunodeficiency, adenosine deaminase deficiency, chronic granulomatous disease, and Wiskott-Aldrich syndrome. While such progress has widened the choice of therapeutic options in some specific cases of primary immunodeficiency, much remains to be done to extend the geographical availability of such an advanced approach and to increase the number of diseases that can be targeted...
2016: F1000Research
Hikmet G Tanyildiz, Handan Dincaslan, Gulsan Yavuz, Emel Unal, Aydan Ikinciogulları, Figen Dogu, Nurdan Tacyildiz
The prevalence of lymphoma in primary immunodeficiency cases and autoimmune diseases, as well as on a background of immunodeficiency following organ transplants, is increasing. The lymphoma treatment success rate is known to be a low prognosis. Our study aimed to emphasize the low survival rates in immunodeficient vs. immunocompetent lymphoma patients and also to investigate the effect of rituximab in patients with ataxia telangiectasia and other immunodeficiencies. We summarized the clinical characteristics and treatment results of 17 cases with primary immunodeficiency that developed non-Hodgkin lymphoma (NHL) and Hodgkin lymphoma (HL) retrospectively...
October 2016: Journal of Clinical Immunology
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