Works matching DE "WISKOTT-Aldrich syndrome"

Results: 285

Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 6, doi. 10.3390/ijns11010006

By:

Klippel, Claire;
Park, Jiwoon;
Sandin, Sean;
Winstone, Tara M. L.;
Chen, Xue;
Orton, Dennis;
Singh, Aranjeet;
Hill, Jonathan D.;
Shahbal, Tareq K.;
Hamacher, Emily;
Officer, Brandon;
Thompson, John;
Duong, Phi;
Grotzer, Tim;
Hahn, Si Houn

Publication type:

Article

B cells: WASP stings autoreactive B cells.

Published in:

2011

By:

Papatriantafyllou, Maria

Publication type:

journal article

WASP: a key immunological multitasker.

Published in:

2010

By:

Thrasher, Adrian J.;
Burns, Siobhan O.

Publication type:

journal article

Primary atopic disorders and chronic skin disease.

Published in:

Pediatric Allergy & Immunology, 2022, v. 33, p. 65, doi. 10.1111/pai.13633

By:

Cinicola, Bianca Laura;
Corrente, Stefania;
Castagnoli, Riccardo;
Lougaris, Vassilios;
Giardino, Giuliana;
Leonardi, Lucia;
Volpi, Stefano;
La Torre, Francesco;
Federici, Silvia;
Soresina, Annarosa;
Cancrini, Caterina;
Marseglia, Gian Luigi;
Cardinale, Fabio;
Licari, Amelia

Publication type:

Article

Primary atopic disorders and chronic skin disease.

Published in:

Pediatric Allergy & Immunology, 2022, v. 33, p. 65, doi. 10.1111/pai.13633

By:

Cinicola, Bianca Laura;
Corrente, Stefania;
Castagnoli, Riccardo;
Lougaris, Vassilios;
Giardino, Giuliana;
Leonardi, Lucia;
Volpi, Stefano;
La Torre, Francesco;
Federici, Silvia;
Soresina, Annarosa;
Cancrini, Caterina;
Marseglia, Gian Luigi;
Cardinale, Fabio;
Licari, Amelia

Publication type:

Article

The evaluation of malignancies in Turkish primary immunodeficiency patients; a multicenter study.

Published in:

Pediatric Allergy & Immunology, 2020, v. 31, n. 5, p. 528, doi. 10.1111/pai.13231

By:

Cekic, Sukru;
Metin, Ayse;
Aytekin, Caner;
Edeer Karaca, Neslihan;
Baris, Safa;
Karali, Yasin;
Kiykim, Ayca;
Karakoc Aydıner, Elif;
Ozen, Ahmet;
Aslan, Torehan;
Sevinir, Betul;
Aksu, Guzide;
Kutukculer, Necil;
Kilic, Sara Sebnem;
Santos, Alexandra

Publication type:

Article

Effect of intravenous gammaglobulin (IVIG) on the platelet count in patients with Wiskott-Aldrich syndrome.

Published in:

Pediatric Allergy & Immunology, 1995, v. 6, n. 2, p. 91, doi. 10.1111/j.1399-3038.1995.tb00265.x

By:

Mathew, P.;
Conley, M. E.

Publication type:

Article

Pathophysiology of Congenital High Production of IgE and Its Consequences: A Narrative Review Uncovering a Neglected Setting of Disorders.

Published in:

Life (2075-1729), 2024, v. 14, n. 10, p. 1329, doi. 10.3390/life14101329

By:

Galletta, Francesca;
Gambadauro, Antonella;
Foti Randazzese, Simone;
Passanisi, Stefano;
Sinatra, Vito;
Caminiti, Lucia;
Zirilli, Giuseppina;
Manti, Sara

Publication type:

Article

WASp Is Essential for Effector-to-Memory conversion and for Maintenance of CD8<sup>+</sup>T Cell Memory.

Published in:

Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.02262

By:

Liu, Qiao;
Zhang, Liang;
Shu, Zhou;
Yu, Tingting;
Zhou, Lina;
Song, Wenxia;
Zhao, Xiaodong

Publication type:

Article

When WAS Gene Diagnosis Is Needed: Seeking Clues Through Comparison Between Patients With Wiskott-Aldrich Syndrome and Idiopathic Thrombocytopenic Purpura.

Published in:

Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01549

By:

Jin, Ying-Ying;
Wu, Jing;
Chen, Tong-Xin;
Chen, Ji

Publication type:

Article

CMV Retinitis in Wiskott Aldrich Syndrome.

Published in:

Ocular Immunology & Inflammation, 2023, v. 31, n. 1, p. 134, doi. 10.1080/09273948.2021.1995762

By:

Luo, Jia;
Peng, Jie;
Zhao, Pei-Quan;
Fei, Ping

Publication type:

Article

Hematopoietic Stem Cell Therapy for Wiskott–Aldrich Syndrome: Improved Outcome and Quality of Life.

Published in:

Journal of Blood Medicine, 2021, v. 12, p. 435, doi. 10.2147/JBM.S232650

By:

Mallhi, Kanwaldeep K;
Petrovic, Aleksandra;
Ochs, Hans D

Publication type:

Article

Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome.

Published in:

Bone Marrow Transplantation, 2012, v. 47, n. 11, p. 1428, doi. 10.1038/bmt.2012.31

By:

Shin, C R;
Kim, M-O;
Li, D;
Bleesing, J J;
Harris, R;
Mehta, P;
Jodele, S;
Jordan, M B;
Marsh, R A;
Davies, S M;
Filipovich, A H

Publication type:

Article

Atypical Wiskott–Aldrich syndrome without thrombocytopenia partially responding to omalizumab therapy.

Published in:

Clinical & Experimental Dermatology, 2022, v. 47, n. 5, p. 1013, doi. 10.1111/ced.15119

By:

Gupta, Priyansh;
Subburaj, Kirutika;
Jindal, Ankur;
Rawat, Amit;
Rikhi, Rashmi;
De, Dipankar;
Handa, Sanjeev;
Mahajan, Rahul

Publication type:

Article

The clinical features of autoimmunity in 53 patients with Wiskott-Aldrich syndrome in China: a single-center study.

Published in:

2015

By:

Chen, Nan;
Zhang, Zhi-Yong;
Liu, Da-Wei;
Liu, Wei;
Tang, Xue-Mei;
Zhao, Xiao-Dong

Publication type:

journal article

Kaposi's sarcoma in a child with Wiskott-Aldrich syndrome.

Published in:

2006

By:

Picard, Capucine;
Mellouli, Fethi;
Duprez, Renan;
Chédeville, Gaëlle;
Neven, Bénédicte;
Fraitag, Sylvie;
Delaunay, Jean;
Le Deist, Françoise;
Fischer, Alain;
Blanche, Stéphane;
Bodemer, Christine;
Gessain, Antoine;
Casanova, Jean-Laurent;
Bejaoui, Mohamed;
Chédeville, Gaëlle;
Neven, Bénédicte;
Le Deist, Françoise;
Blanche, Stéphane

Publication type:

journal article

Pseudomonas aeruginosa sepsis and ecthyma gangrenosum as initial manifestations of primary immunodeficiency.

Published in:

2004

By:

Baro, María;
Angel Marín, Miguel;
Ruiz-Contreras, Jesús;
Fernandez de Miguel, Sira;
Sánchez-Díaz, Ignacio;
Baro, María;
Marín, Miguel Angel;
Ruiz-Contreras, Jesús;
de Miguel, Sira Fernandez;
Sánchez-Díaz, Ignacio

Publication type:

journal article

Cyclic manner of neutropenia in a patient with HAX-1 mutation.

Published in:

Pediatric Hematology & Oncology, 2018, v. 35, n. 3, p. 181, doi. 10.1080/08880018.2018.1486489

By:

Cipe, Funda Erol;
Celiksoy, Mehmet Halil;
Erturk, Biray;
Aydogmus, Çiğdem

Publication type:

Article

Wiskott–Aldrich syndrome: Two case reports with a novel mutation.

Published in:

Pediatric Hematology & Oncology, 2017, v. 34, n. 5, p. 286, doi. 10.1080/08880018.2017.1397072

By:

Kamuran, Karaman;
Çetin, Mecnun;
Geylan, Hadi;
Karaman, Serap;
Demir, Nihat;
Yurekturk, Eyyup;
Yavuz, İbrahim;
Yavuz, Göknur;
Tuncer, Oğuz

Publication type:

Article

MicroRNA-1253 Regulation of WASF2 (WAVE2) and its Relevance to Racial Health Disparities.

Published in:

Genes, 2020, v. 11, n. 5, p. 572, doi. 10.3390/genes11050572

By:

Arkorful, Mercy A.;
Noren Hooten, Nicole;
Zhang, Yongqing;
Hewitt, Amirah N.;
Barrientos Sanchez, Lori;
Evans, Michele K.;
Dluzen, Douglas F.

Publication type:

Article

Congenital Amegakaryocytic Thrombocytopenia: A Brief Review of the Literature.

Published in:

Clinical Medicine Insights: Pathology, 2010, n. 3, p. 25, doi. 10.4137/CPath.S4972

By:

Al-Qahtani, Fatma S.

Publication type:

Article

Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments.

Published in:

Application of Clinical Genetics, 2014, v. 7, p. 55, doi. 10.2147/TACG.S58444

By:

Buchbinder, David;
Nugent, Diane J.;
Fillipovich, Alexandra H.

Publication type:

Article

Wiskott-Aldrich Syndrome in a Girl Caused by Heterozygous WASP Mutation and Extremely Skewed X-Chromosome Inactivation: A Novel Association with Maternal Uniparental Isodisomy 6.

Published in:

Neonatology (16617800), 2015, v. 107, n. 3, p. 185, doi. 10.1159/000370059

By:

Takimoto, Tomohito;
Takada, Hidetoshi;
Ishimura, Masataka;
Kirino, Makiko;
Hata, Kenichiro;
Ohara, Osamu;
Morio, Tomohiro;
Hara, Toshiro

Publication type:

Article

Extended genotypic evaluation and comparison of twenty-two cases of lethal EEHV1 hemorrhagic disease in wild and captive Asian elephants in India.

Published in:

PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0202438

By:

Zachariah, A.;
Sajesh, P. K.;
Santhosh, S.;
Bathrachalam, C.;
Megha, M.;
Pandiyan, J.;
Jishnu, M.;
Kobragade, R. S.;
Long, S. Y.;
Zong, J-C;
Latimer, E. M.;
Heaggans, S. Y.;
Hayward, G. S.

Publication type:

Article

Topical tacrolimus is effective against eczema in Wiskott-Aldrich syndrome (WAS).

Published in:

2007

By:

Bienemann, Klaus;
Gudowius, Sonja;
Niehues, Tim

Publication type:

journal article

Mutations to the rescue.

Published in:

Nature Medicine, 2011, v. 17, n. 4, p. 405, doi. 10.1038/nm0411-405

By:

May, Mike

Publication type:

Article

Computational Analysis of Binding of the GBD Domain of WASP to Different Binding Partners.

Published in:

Croatica Chemica Acta, 2011, v. 84, n. 2, p. 211, doi. 10.5562/cca1806

By:

Janowska, Maria K.;
Zubac, Ruben;
Zagrovic, Bojan

Publication type:

Article

Primary immune deficiency disease awareness among a group of Turkish physicians.

Published in:: Turkish Journal of Pediatrics, 2010, v. 52, n. 4, p. 372
Publication type:: Article

Tuftelin1 drives experimental pulmonary fibrosis progression by facilitating stress fiber assembly.

Published in:

Respiratory Research, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12931-023-02633-w

By:

Niu, Caoyuan;
Xu, Kai;
Hu, Yanan;
Jia, Yanling;
Yang, Yuexia;
Pan, Xiaoyue;
Wan, Ruyan;
Lian, Hui;
Wang, Qiwen;
Yang, Juntang;
Li, Yajun;
Rosas, Ivan;
Wang, Lan;
Yu, Guoying

Publication type:

Article

Gα i 2 Induces Cell Migration in PC3 Prostate Cancer Cells in the Absence of Rac1 Activation.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 6, p. 2663, doi. 10.3390/ijms26062663

By:

Johnson, Rarnice;
Caggia, Silvia;
Khan, Shafiq A.

Publication type:

Article

Knockdown of WAVE3 impairs HGF induced migration and invasion of prostate cancer cells.

Published in:

Cancer Cell International, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12935-015-0203-3

By:

Moazzam, Muhammad;
Lin Ye;
Ping-Hui Sun;
Kynaston, Howard;
Jiang, Wen G.

Publication type:

Article

Two cases of wiskott-Aldrich syndrome in neonates due to gene mutations.

Published in:

Fetal & Pediatric Pathology, 2013, v. 32, n. 4, p. 312, doi. 10.3109/15513815.2012.754530

By:

Zhang, Shulian;
Zhang, Rong;
Chen, Chao;
Sun, Jinqiao

Publication type:

Article

Immunodeficiency: Gene therapy for primary immune deficiency.

Published in:

Allergy & Asthma Proceedings, 2024, v. 45, n. 5, p. 384, doi. 10.2500/aap.2024.45.240054

By:

Afzal, Sarah Y.;
MacDougall, Matthew S.;
McGhee, Sean A.

Publication type:

Article

Post-transplant persistent lymphopenia is a strong predictor of late survival in isolated intestine and multivisceral transplantation.

Published in:

Transplant International, 2015, v. 28, n. 10, p. 1195, doi. 10.1111/tri.12620

By:

Nagai, Shunji;
Mangus, Richard S.;
Anderson, Eve;
Ekser, Burcin;
Kubal, Chandrashekhar A.;
Burch, Tracy;
Fridell, Jonathan A.;
Tector, A. Joseph

Publication type:

Article

SCAR knockouts in Dictyostelium: WASP assumes SCAR's position and upstream regulators in pseudopods.

Published in:

Journal of Cell Biology, 2012, v. 198, n. 4, p. 501, doi. 10.1083/jcb.201205058

By:

Veltman, Douwe M.;
King, Jason S.;
Machesky, Laura M.;
Insall, Robert H.

Publication type:

Article

N-WASP is required for membrane wrapping and myelination by Schwann cells.

Published in:

Journal of Cell Biology, 2011, v. 192, n. 2, p. 243, doi. 10.1083/jcb.201010013

By:

Novak, Nurit;
Bar, Vered;
Sabanay, Helena;
Frechter, Shahar;
Jaegle, Martine;
Snapper, Scott B.;
Meijer, Dies;
Peles, Elior

Publication type:

Article

P134: CHALLENGES IN PREDICTING WISKOTT‐ALDRICH SYNDROME PHENOTYPE IN A CASE OF LOW PLATELETS.

Published in:: 2023
Publication type:: Abstract

CGRA7: A GAME OF HIDE AND SEEK: VARICELLA ZOSTER CEREBRAL VASCULOPATHY IN AN ADULT WITH WISKOTT-ALDRICH SYNDROME.

Published in:

Internal Medicine Journal, 2016, v. 46, p. 31, doi. 10.1111/imj.7_13198

By:

Knezevic, Brittany;
Nolan, David;
John, Mina;
French, Martyn

Publication type:

Article

Molecular characterization of two Malaysian patients with Wiskott-Aldrich syndrome.

Published in:

Malaysian Journal of Pathology, 2015, v. 37, n. 2, p. 153

By:

BAHARIN, Mohd Farid;
KADER IBRAHIM, Sabeera Begum;
YAP Song Hong;
ABDUL MANAF, Aina Mariana;
RIPEN, Adiratna MAT;
DHALIWAL, Jasbir Singh

Publication type:

Article

Successful low‐dose chemotherapy for refractory Epstein‐Barr virus—related post‐transplant lymphoproliferative disorder following hematopoietic stem cell transplantation in a child with Wiskott‐Aldrich syndrome.

Published in:

Clinical Case Reports, 2021, v. 9, n. 5, p. 1, doi. 10.1002/ccr3.4111

By:

Xi, Bixin;
Zhou, Chen;
Zhang, Yu

Publication type:

Article

Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans.

Published in:

eLife, 2021, p. 1, doi. 10.7554/eLife.61590

By:

Courtland, Jamie L.;
Bradshaw, Tyler W. A.;
Waitt, Greg;
Soderblom, Erik J.;
Ho, Tricia;
Rajab, Anna;
Vancini, Ricardo;
Il Hwan Kim;
Soderling, Scott H.

Publication type:

Article

Autoimmune thyroiditis following HLA‐matched sibling hematopoietic stem cell transplantation for Wiskott‐Aldrich syndrome.

Published in:

Pediatric Transplantation, 2018, v. 22, n. 5, p. 1, doi. 10.1111/petr.13222

By:

Knight, Tristan;
Kotz, Katherine;
Savaşan, Süreyya

Publication type:

Article

Successful treatment of non-Hodgkin's lymphoma using R-CHOP in a patient with Wiskott-Aldrich syndrome followed by a reduced-intensity stem cell transplant.

Published in:

Pediatric Transplantation, 2014, v. 18, n. 6, p. E208, doi. 10.1111/petr.12297

By:

Koga, Yuhki;
Takada, Hidetoshi;
Suminoe, Aiko;
Ohga, Shouichi;
Hara, Toshiro

Publication type:

Article

Successful allogeneic hemopoietic stem cell transplantation in a case of Wiskott-Aldrich syndrome and non-Hodgkin lymphoma.

Published in:

Pediatric Transplantation, 2013, v. 17, n. 6, p. E146, doi. 10.1111/petr.12114

By:

Tavil, Betul;
Erdem, Arzu Yazal;
Azik, Fatih;
Isik, Pamir;
Metin, Ayse;
Emir, Suna;
Uckan, Duygu;
Tunc, Bahattin

Publication type:

Article

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-14522-1

By:

Rawat, Amit;
Sharma, Madhubala;
Vignesh, Pandiarajan;
Jindal, Ankur Kumar;
Suri, Deepti;
Das, Jhumki;
Joshi, Vibhu;
Tyagi, Rahul;
Sharma, Jyoti;
Kaur, Gurjit;
Lau, Yu-Lung;
Imai, Kohsuke;
Nonoyama, Shigeaki;
Lenardo, Michael;
Singh, Surjit

Publication type:

Article

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder.

Published in:

Brain Sciences (2076-3425), 2021, v. 11, n. 7, p. 931, doi. 10.3390/brainsci11070931

By:

Srivastava, Siddharth;
Macke, Erica L.;
Swanson, Lindsay C.;
Coulter, David;
Klee, Eric W.;
Mullegama, Sureni V.;
Xie, Yili;
Lanpher, Brendan C.;
Bedoukian, Emma C.;
Skraban, Cara M.;
Villard, Laurent;
Milh, Mathieu;
Leppert, Mary L. O.;
Cohen, Julie S.

Publication type:

Article

Amlodipine‐Induced Gingival Overgrowth With Unusual Presentation as a Gingival Mass and Rapid Regression After Dose Reduction.

Published in:

2017

By:

Gopal, Vinitha;
Quo, Brian C.;
Chainani‐Wu, Nita

Publication type:

Case Study

Wiskott-Aldrich syndrome protein forms nuclear condensates and regulates alternative splicing.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31220-8

By:

Yuan, Baolei;
Zhou, Xuan;
Suzuki, Keiichiro;
Ramos-Mandujano, Gerardo;
Wang, Mengge;
Tehseen, Muhammad;
Cortés-Medina, Lorena V.;
Moresco, James J.;
Dunn, Sarah;
Hernandez-Benitez, Reyna;
Hishida, Tomoaki;
Kim, Na Young;
Andijani, Manal M.;
Bi, Chongwei;
Ku, Manching;
Takahashi, Yuta;
Xu, Jinna;
Qiu, Jinsong;
Huang, Ling;
Benner, Christopher

Publication type:

Article

Targeting the actin nucleation promoting factor WASp provides a therapeutic approach for hematopoietic malignancies.

Published in:

Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25842-7

By:

Biber, Guy;
Ben-Shmuel, Aviad;
Noy, Elad;
Joseph, Noah;
Puthenveetil, Abhishek;
Reiss, Neria;
Levy, Omer;
Lazar, Itay;
Feiglin, Ariel;
Ofran, Yanay;
Kedmi, Meirav;
Avigdor, Abraham;
Fried, Sophia;
Barda-Saad, Mira

Publication type:

Article

A RARE PRESENTATION OF WISKOTT - ALDRICH SYNDROME WITH MACROTHROMBOCYTOPENIA.

Published in:

2016

By:

Verma, Bela;
Ronghe, Ashwini;
Shukla, Priyanka

Publication type:

Case Study