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https://www.readbyqxmd.com/read/30299399/advances-in-site-specific-gene-editing-for-primary-immune-deficiencies
#1
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...
October 6, 2018: Current Opinion in Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/30267241/high-rates-of-community-and-hospital-acquired-infections-in-patients-with-cellular-immunodeficiencies
#2
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...
September 29, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/30218511/hematopoietic-stem-cell-transplantation-for-primary-immunodeficiency-disorders-experience-from-a-referral-center-in-india
#3
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
https://www.readbyqxmd.com/read/30151618/allogeneic-hematopoietic-cell-transplantation-in-patients-with-primary-immunodeficiencies-in-korea-eleven-year-experience-in-a-single-center
#4
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...
August 27, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/30124469/constitutive-activation-of-wasp-in-x-linked-neutropenia-renders-neutrophils-hyperactive
#5
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
https://www.readbyqxmd.com/read/30104412/bond-swapping-from-a-charge-cloud-allows-flexible-coordination-of-upstream-signals-through-wasp-multiple-regulatory-roles-for-the-wasp-basic-region
#6
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
https://www.readbyqxmd.com/read/30084784/surgical-resection-of-thoracic-aortic-aneurysms-in-wiskott-aldrich-syndrome
#7
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
https://www.readbyqxmd.com/read/30061306/expression-of-n471d-strumpellin-leads-to-defects-in-the-endolysosomal-system
#8
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
https://www.readbyqxmd.com/read/30055182/100-survival-after-transplantation-of-34-wiskott-aldrich-syndrome-patients-over-20-years
#9
R Elfeky, J M Furtado-Silva, R Chiesa, K Rao, P Amrolia, G Lucchini, K Gilmour, S Adams, S Bibi, A Worth, A J Thrasher, W Qasim, P Veys
No abstract text is available yet for this article.
July 25, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/30048768/bleeding-and-splenectomy-in-wiskott-aldrich-syndrome-a-single-centre-experience
#10
Elizabeth Rivers, Austen Worth, Adrian J Thrasher, Siobhan O Burns
No abstract text is available yet for this article.
July 23, 2018: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/30041660/wipf1-antagonizes-the-tumor-suppressive-effect-of-mir-141-200c-and-is-associated-with-poor-survival-in-patients-with-pdac
#11
Yu Pan, Fengchun Lu, Ping Xiong, Maoen Pan, Zheyang Zhang, Xianchao Lin, Minggui Pan, Heguang Huang
BACKGROUND: Aberrant expression of Wiskott-Aldrich syndrome protein interacting protein family member 1 (WIPF1) contributes to the invasion and metastasis of several malignancies. However, the role of WIPF1 in human pancreatic ductal adenocarcinoma (PDAC) remains poorly understood. METHODS: Human pancreatic cancer samples from PDAC patients were collected for methylation analysis. Bioinformatic prediction program and luciferase reporter assay were used to identify microRNAs regulating WIPF1 expression...
July 24, 2018: Journal of Experimental & Clinical Cancer Research: CR
https://www.readbyqxmd.com/read/30029636/a-novel-splice-site-mutation-in-was-gene-in-patient-with-wiskott-aldrich-syndrome-and-chronic-colitis-a-case-report
#12
Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Hassan Dastsooz, Mohammad Silawi, Mohammad Ali Farazi Fard, Ali Adib, Ali Kafashan, Zahra Tabatabaei, Forough Sadeghipour, Mohammad Ali Faghihi
BACKGROUND: Wiskott-Aldrich syndrome is an X-linked recessive immunodeficiency due to mutations in Wiskott-Aldrich syndrome (WAS) gene. WAS gene is encoded for a multifunctional protein with key roles in actin polymerization, signaling pathways, and cytoskeletal rearrangement. Therefore, the impaired protein or its absence cause phenotypic spectrum of the disease. Since identification of novel mutations in WAS gene can help uncover the exact pathogenesis of Wiskott-Aldrich syndrome, the purpose of this study was to investigate disease causing-mutation in an Iranian male infant suspicious of this disorder...
July 20, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/30021160/the-lack-of-wip-binding-to-actin-results-in-impaired-b-cell-migration-and-altered-humoral-immune-responses
#13
Selina Jessica Keppler, Marianne Burbage, Francesca Gasparrini, Lara Hartjes, Shweta Aggarwal, Michel J Massaad, Raif S Geha, Andreas Bruckbauer, Facundo D Batista
Wiskott-Aldrich syndrome protein (WASp) is a main cytoskeletal regulator in B cells. WASp-interacting protein (WIP) binds to and stabilizes WASp but also interacts with actin. Using mice with a mutated actin binding domain of WIP (WIPΔABD), we here investigated the role of WIP binding to actin during B cell activation. We found an altered differentiation of WIPΔABD B cells and diminished antibody affinity maturation after immunization. Mechanistically, WIPΔABD B cells showed impaired B cell receptor (BCR)-induced PI3K signaling and actin reorganization, likely caused by diminished CD81 expression and altered CD19 dynamics on the B cell surface...
July 17, 2018: Cell Reports
https://www.readbyqxmd.com/read/29996795/pregnancy-child-bearing-and-prevention-of-giving-birth-to-the-affected-children-in-patients-with-primary-immunodeficiency-disease-a-case-series
#14
Saba Sheikhbahaei, Roya Sherkat, Nadezhda Camacho-Ordonez, Razie Khoshnevisan, Asadollah Kalantari, Mansour Salehi, Seyed Saman Nazemian, Mohammad Hossein Nasr-Esfahani, Christophe Klein
BACKGROUND: Patients with primary immunodeficiency disease (PID) who survive to adulthood and willing to have a child mostly are worried whether their disease affects their fertility and/or pregnancy and also if their child would be predisposed to PID. CASE PRESENTATION: We report the outcome of conception, pregnancy and their management in 9 families with definite diagnosis of PID. A chronic granulomatous disease subject with an uneventful pregnancy developed fungal sacral osteomyelitis few weeks after delivery...
July 11, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29991546/a-novel-mutation-in-wiskott-aldrich-gene-manifesting-as-macrothrombocytopenia-and-neutropenia
#15
Mais Arwani, Daniel Lee, Abdullah Haddad, Prerna Mewawalla
Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder, described as a clinical triad of microthrombocytopenia, eczema and recurrent infections. Different mutations in WAS gene have been identified, resulting in various phenotypes and a broad range of disease severity, ranging from classic WAS to X-linked thrombocytopenia and X-linked neutropenia. WAS in some cases can be fatal without haematopoietic stem cell transplantation early in life. In this particular case, we present a novel mutation with a unique presentation...
July 10, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29983408/a-novel-mutation-in-a-child-with-atypical-wiskott-aldrich-syndrome-complicated-by-cytomegalovirus-infection
#16
Zühre Kaya, Cansu Muluk, Şule Hakoloğlu, Lale Ş Tufan
No abstract text is available yet for this article.
July 2, 2018: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/29979988/mapping-active-gene-regulatory-regions-in-human-repopulating-long-term-hscs
#17
Peer Wünsche, Elias S P Eckert, Tim Holland-Letz, Anna Paruzynski, Agnes Hotz-Wagenblatt, Raffaele Fronza, Tim Rath, Irene Gil-Farina, Manfred Schmidt, Christof von Kalle, Christoph Klein, Claudia R Ball, Friederike Herbst, Hanno Glimm
Genes that regulate hematopoietic stem cell (HSC) self-renewal, proliferation, and differentiation are tightly controlled by regulatory regions. However, mapping such regions relies on surface markers and immunophenotypic definition of HSCs. Here, we use γ-retroviral integration sites (γRV ISs) from a gene therapy trial for 10 patients with Wiskott-Aldrich syndrome to mark active enhancers and promoters in functionally defined long-term repopulating HSCs. Integration site clusters showed the highest ATAC-seq signals at HSC-specific peaks and strongly correlated with hematopoietic risk variants...
July 5, 2018: Cell Stem Cell
https://www.readbyqxmd.com/read/29961501/a-2-year-old-boy-with-difficulty-waking-after-bone-marrow-transplantation
#18
Eileen Broomall, John Michael Taylor, Katrina Peariso
We report a 2-year-old boy who was evaluated for difficult waking during prolonged intensive care unit admission associated with bone marrow transplant for Wiskott-Aldrich syndrome. Neurologic examination was found to be abnormal, with nuchal rigidity initially, then decreased extremity movement and areflexia developing over several days. Electromyogram showed length-dependent, axonal, sensorimotor polyneuropathy. Cerebrospinal fluid showed albuminocytologic dissociation suggestive of Guillain-Barre syndrome or acute motor and sensory axonal neuropathy variant...
July 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29958948/wip-itsn1-complex-is-involved-in-cellular-vesicle-trafficking-and-formation-of-filopodia-like-protrusions
#19
Tetyana Gryaznova, Olga Gubar, Mariia Burdyniuk, Sergii Kropyvko, Alla Rynditch
WIP (WASP interacting protein) together with N-WASP (neural Wiskott-Aldrich syndrome protein) regulates actin polymerization that is crucial for invadopodia and filopodia formation. Recently, we reported the WIP interaction with ITSN1 which is highly implicated in endo-/exocytosis, apoptosis, mitogenic signaling and cytoskeleton rearrangements. Here we demonstrate that the WIP/ITSN1 complex is involved in the transferrin receptor recycling and partially co-localizes with a marker of the fast recycling endosomes, RAB4...
October 20, 2018: Gene
https://www.readbyqxmd.com/read/29956472/thrombopoietin-receptor-agonists-in-hereditary-thrombocytopenias
#20
REVIEW
F Rodeghiero, A Pecci, C L Balduini
Hereditary thrombocytopenias (HTPs) constitute a heterogeneous group of diseases characterized by a reduction in platelet count and a potential bleeding risk. As a result of advances in diagnostic methods, HTPs are increasingly being identified, and appear to be less rare than previously thought. Most HTPs do not have effective treatments, except for platelet transfusion when bleeding occurs and in preparation for procedures associated with a risk of bleeding. Preliminary clinical evidence suggests that thrombopoietin receptor agonists (TPO-RAs) with an established use in the treatment of certain acquired thrombocytopenias are well tolerated and provide clinical benefits in patients with some forms of HTP...
September 2018: Journal of Thrombosis and Haemostasis: JTH
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