Somatic reversion in Wiskott-Aldrich syndrome: Case reports and mechanistic insights.

Autor: Rikhi R; Pediatric Allergy Immunology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Basu S; Pediatric Allergy Immunology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Arora K; Pediatric Allergy Immunology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Chan KW; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong., Jindal AK; Pediatric Allergy Immunology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Rawat A; Pediatric Allergy Immunology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Lau YL; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong., Suri D; Pediatric Allergy Immunology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Publikováno v: Scandinavian journal of immunology [Scand J Immunol] 2024 Nov; Vol. 100 (5), pp. e13408. Date of Electronic Publication: 2024 Sep 20.

Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.

Autor: Vallée TC; Pediatric Hematology/Oncology, Dr von Hauner University Children's Hospital, Munich, Germany., Glasmacher JS; Pediatric Hematology/Oncology, Dr von Hauner University Children's Hospital, Munich, Germany., Buchner H; Staburo GmbH, Munich, Germany., Arkwright PD; Lydia Becker Institute of Immunology and Inflammation, The University of Manchester & Royal Manchester Children's Hospital, Manchester, United Kingdom., Behrends U; Children's Hospital, School of Medicine, Technical University Munich, Munich, Germany., Bondarenko A; Department of Pediatrics, Immunology, Infectious and Rare Diseases and Allergology, European Medical School, International European University, Kyiv, Ukraine., Browning MJ; Department of Infection, Immunity and Inflammation, University of Leicester, Leicester, United Kingdom., Buchbinder D; Department of Hematology, Children's Hospital of Orange County, Orange, CA., Cattoni A; Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; School of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy., Chernyshova L; Department of Pediatrics, Pediatric Infectious Diseases, Immunology and Allergology, Shupyk National Healthcare University of Ukraine, Kyiv, Ukraine., Ciznar P; Department of Pediatrics, Faculty of Medicine, Comenius University, Bratislava, Slovakia., Cole T; Department of Allergy and Immunology, The Royal Children's Hospital, Melbourne, Australia., Czogała W; Department of Pediatric Oncology and Hematology, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland., Dueckers G; Helios Kliniken Krefeld, Children's Hospital, Krefeld, Germany., Edgar JDM; St James's Hospital & School of Medicine, Trinity College, Dublin, Ireland., Erbey F; Department of Pediatric Hematology/Oncology, Koç University School of Medicine, İstanbul, Turkey., Fasth A; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Ferrua F; Pediatric Immunohematology and Stem Cell Program, San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy., Formankova R; Department of Pediatric Hematology and Oncology, Charles University and University Hospital Motol, Prague, Czech Republic., Gambineri E; Department of NEUROFARBA, Section of Child's Health, University of Florence, Florence, Italy.; Department of Haematology-Oncology, Anna Meyer University Children's Hospital (AOU Meyer IRCCS), Florence, Italy., Gennery AR; Translational and Clinical Research Institute, Newcastle University, and Paediatric Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom., Goldman FD; Department of Pediatrics, The University of Alabama at Birmingham, Birmingham, AL., Gonzalez-Granado LI; Department of Pediatrics, Primary Immunodeficiencies Unit, Research Institute, Hospital 12 Octubre, School of Medicine, Complutense University of Madrid, Madrid, Spain., Heilmann C; Department for Children and Adolescents, Pediatric Hematopoietic Stem Cell Transplantation and Immunodeficiency, Copenhagen University Hospital Rigshospitalet, København, Denmark., Heiskanen-Kosma T; Department of Pediatrics, Kuopio University Hospital, Kuopio, Finland., Juntti H; Department of Pediatrics and Adolescent Medicine, Oulu University Hospital and Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland., Kainulainen L; Division of Pediatric Hematology and Oncology, Department of Pediatrics, Turku University Hospital, Turku, Finland., Kanegane H; Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan., Karaca NE; Division of Pediatric Immunology, Department of Pediatrics, Ege University, The Medical School, Izmir, Turkey., Kilic SS; Pediatric Immunology and Rheumatology, Bursa Uludag University School of Medicine, Bursa, Turkey., Klein C; Pediatric Hematology/Oncology, Dr von Hauner University Children's Hospital, Munich, Germany., Kołtan S; Department of Paediatrics, Haematology and Oncology, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University, Toruń, Poland., Kondratenko I; Russian Children's Clinical Hospital, Pirogov National Research Medical University, Moscow, Russia., Meyts I; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium., Nasrullayeva GM; Azerbaijan Medical University, Baku, Azerbaijan., Notarangelo LD; Medical Direction, Children's Hospital, ASST Spedali Civili, Brescia, Italy., Pasic S; Department of Immunology, Mother and Child Health Care Institute of Serbia, Belgrade, Serbia., Pellier I; Centre de référence des déficits immunitaires primitifs CEREDIH, CHU d'Angers, Angers, France., Pignata C; Department of Translational Medical Science, Section of Pediatrics, Federico II University, Napoli, Italy., Misbah S; Clinical Immunology, John Radcliffe Hospital, Oxford, United Kingdom., Schulz A; Department of Pediatrics, University Medical Center Ulm, Ulm, Germany., Segundo GR; Allergy and Immunology Division, Pediatrics Department, Universidade Federal de Uberlândia, Uberlândia, Brazil., Shcherbina A; Dmitry Rogachev National Research and Clinical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Slatter M; Translational and Clinical Research Institute, Newcastle University, and Paediatric Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom., Sokolic R; Hematologic Malignancies Branch, Office of Therapeutic Products, Center for Biologics Evaluation and Research, Food and Drug Administration, Silver Spring, MD., Soler-Palacin P; Pediatric Infectious Diseases and Immunodeficiencies Unit, Children's Hospital, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Stepensky P; Bone Marrow Transplantation Department, Hadassah-Hebrew, University Medical Center, Jerusalem, Israel., van Montfrans JM; Department of Pediatric Immunology and Infectious Diseases, University Medical Centre Utrecht, Utrecht, The Netherlands., Ryhänen S; Children's Hospital, University of Helsinki and Helsinki University Hospital, Pediatric Research Center, Helsinki, Finland., Wolska-Kuśnierz B; Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland., Ziegler JB; School of Women's & Children's Health, University of New South Wales, Sydney, Australia., Zhao X; Department of Rheumatism and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China.; Vita-Salute San Raffaele University, Milan, Italy., Aiuti A; Pediatric Immunohematology and Stem Cell Program, San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy., Ochs HD; University of Washington School of Medicine, Seattle, WA., Albert MH; Pediatric Hematology/Oncology, Dr von Hauner University Children's Hospital, Munich, Germany.

Publikováno v: Blood [Blood] 2024 Jun 13; Vol. 143 (24), pp. 2504-2516.

Spectrum of WAS gene mutations in Vietnamese patients with Wiskott-Aldrich syndrome.

Autor: Chuong HQ; Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam., Xinh PT; Department of Hematology, Faculty of Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.; Ho Chi Minh City Blood Transfusion and Hematology Hospital, Ho Chi Minh City, Vietnam., Tram DB; Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.; Ho Chi Minh City Open University, Ho Chi Minh City, Vietnam., Ha NTT; Department of Molecular Biology, Dai Phuoc Clinic, Ho Chi Minh City, Vietnam., Nguyen TM; Department of Hematology, Children's Hospital 1, Ho Chi Minh City, Vietnam., Anh PNL; Department of Hematology, Children's Hospital 1, Ho Chi Minh City, Vietnam., Van ND; Department of Oncology and Hematology, Children's Hospital 2, Ho Chi Minh City, Vietnam., Anh NHM; Department of Hematology, City Children's Hospital, Ho Chi Minh City, Vietnam., Dung PC; Ho Chi Minh City Blood Transfusion and Hematology Hospital, Ho Chi Minh City, Vietnam., Nghia H; Department of Hematology, Faculty of Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.; Ho Chi Minh City Blood Transfusion and Hematology Hospital, Ho Chi Minh City, Vietnam., Vu HA; Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.

Publikováno v: Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2024 Jan-Dec; Vol. 66 (1), pp. e15770.

Dupilumab for Post-Hematopoietic Cell Transplantation Dermatitis in Wiskott-Aldrich Syndrome.

Autor: Adir D; Allergy and Clinical Immunology Unit, Department of Medicine, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, 6 Weizmann St, 64239, Tel Aviv, Israel. Diklaad@tlvmc.gov.il., Freund T; Allergy and Clinical Immunology Unit, Department of Medicine, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, 6 Weizmann St, 64239, Tel Aviv, Israel., Dotan A; Department of Pediatric Hemato-Oncology, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Mashiah J; Division of Dermatology, Pediatric Dermatology Clinic, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Hagin D; Allergy and Clinical Immunology Unit, Department of Medicine, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, 6 Weizmann St, 64239, Tel Aviv, Israel. Davidha@tlvmc.gov.il.

Publikováno v: Journal of clinical immunology [J Clin Immunol] 2023 Oct; Vol. 43 (7), pp. 1526-1528. Date of Electronic Publication: 2023 May 29.

Wiskott-Aldrich syndrome protein maintains regulatory T cell tolerance by modulating their surface IL-2 receptor levels.

Autor: Zhao Q; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China., Li W; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China., Li W; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China., Lu Y; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China., Zeng T; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China., Zhang W; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China., Zhang M; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China., Zhou L; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China., An Y; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China; Division of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China., Song W; Department of Cell Biology & Molecular Genetics, University of Maryland, College Park, MD, USA., Shu Z; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China. Electronic address: shuzhoushuzhou@163.com., Zhao X; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China; Division of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China. Electronic address: zhaoxd530@aliyun.com.

Publikováno v: Journal of autoimmunity [J Autoimmun] 2024 Dec; Vol. 149, pp. 103336. Date of Electronic Publication: 2024 Nov 16.