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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 (HSP) are genetically diverse and clinically characterized by lower limb weakness and spasticity. The N471D and several other point mutations of human strumpellin (Str), a member of the WASH (Wiskott-Aldrich Syndrome Protein and SCAR Homologue) complex, have been shown to cause HSP type 8 (SPG8). To investigate the molecular functions of wild type and N417D Str, we generated Dictyostelium Str- cells and ectopically expressed Strwt -GFP or StrN471D -GFP in Str- and wt cells. Overexpression of both proteins apparently caused a defect in cell division as we observed a clear increase in multinucleate cells...
July 30, 2018: Disease Models & Mechanisms
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
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
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
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
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
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
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
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
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
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
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...
June 26, 2018: Gene
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...
June 28, 2018: Journal of Thrombosis and Haemostasis: JTH
Maryam Nourizadeh, Leila Shakerian, Stephan Borte, Mohammadreza Fazlollahi, Mohsen Badalzadeh, Massoud Houshmand, Zahra Alizadeh, Hossein Dalili, Ali Rashidi-Nezhad, Anoshirvan Kazemnejad, Mostafa Moin, Lennart Hammarström, Zahra Pourpak
T-cell receptor excision circles (TRECs) and κ-deleting recombination excision circles (KRECs) are recently used for detection of T or B cell lymphopenia in neonates based on region-specific cutoff levels. Here, we report cutoffs for TREC and KREC copies useful for newborn screening and/or diagnosis of primary immunodeficiency diseases (PID) in Iran. DNA was extracted from a single 3.2 mm punch of dried blood spots collected from 2160 anonymized newborns referred to two major referral health centers between 2014 and 2016...
June 26, 2018: Scandinavian Journal of Immunology
Yuki Kakio, Haruhito Adam Uchida, Masashi Kitagawa, Yuka Arata, Ayako Kato, Akiko Inoue-Torii, Norikazu Hinamoto, Ayu Ogawa-Akiyama, Hitoshi Sugiyama, Jun Wada
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. We here present a patient of XLT complicated with mild IgAN who underwent tonsillectomy combined with steroid pulse therapy to achieve complete clinical remission...
June 2018: Acta Medica Okayama
Lijian Shao, Jianhui Chang, Wei Feng, Xiaoyan Wang, Elizabeth A Williamson, Ying Li, Amir Schajnovitz, David Scadden, Luke J Mortensen, Charles P Lin, Linheng Li, Ariel Paulson, James Downing, Daohong Zhou, Robert A Hromas
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. The Hem-1-/- FL HSC engraftment defect is not due to the lack of the canonical function of the WAVE2 complex, the regulation of actin polymerization, because FL HSCs from Hem-1-/- mice exhibit no defects in chemotaxis, BM homing, or adhesion...
June 18, 2018: Nature Communications
Li Fan, Yichao Lu, Xiulian Shen, Hong Shao, Lun Suo, Qiang Wu
Diverse clustered protocadherins are thought to function in neurite morphogenesis and neuronal connectivity in the brain. Here, we report that the protocadherin alpha ( Pcdha ) 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 Wasf) complex. In addition, overexpression of proline-rich tyrosine kinase 2 (Pyk2, also known as Ptk2b, Cakβ, Raftk, Fak2, and Cadtk), a non-receptor cell-adhesion kinase and scaffold protein downstream of Pcdhα, impairs cortical neuron migration via inactivation of the small GTPase Rac1...
June 18, 2018: ELife
Shaobin Huang, Chensong Huang, Wei Chen, Yifeng Liu, Xiaoyu Yin, Jiaming Lai, Lijian Liang, Qian Wang, Anxun Wang, Chaoxu Zheng
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. Moreover, WAVE3 overexpression was related to lymphatic metastasis, a poor differentiation and high pre-operative CA19-9 levels and was an adverse prognostic factor for patients with pancreatic cancer...
August 2018: International Journal of Oncology
Xiu Lian Shen, Yi Chao Lu, Zhi Lian Jia, Qiang Wu
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 (E12.5~ E18.5) and find its expression levels are decreased during embryonic development...
May 20, 2018: Yi Chuan, Hereditas
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