Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia

Autor: Ra Brooimans, Lennart Nilsson, Mjjm Zvelebil, Ql Zhu, Bjm Zegers, C. I. E. Smith, Mauno Vihinen, Waterfield, Hd Ochs

Publikováno v: Karolinska Institutet

Deficiencies in a tyrosine kinase, designated Btk, cause X-linked agammaglobulinemia (XLA) in man, a hereditary defect of B-cell differentiation. Mutations in the newly found PH domain located at the N-terminus of Btk have been shown to be the direct

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88cb951cbe16414c92a206bc30106dd6
https://pubmed.ncbi.nlm.nih.gov/7849006

Low serum thymic hormone levels in patients with chronic graft-versus- host disease

Autor: K Atkinson, GS Incefy, R Storb, KM Sullivan, T Iwata, M Dardenne, HD Ochs, RA Good, ED Thomas

Publikováno v: Blood. 59:1073-1077

We tested the hypothesis that chronic graft-versus-host disease (GVHD) is due to inadequate thymic function by examining pretransplant serum levels of facteur thymique serique (FTS). Four of five patients with no detectable FTS activity developed chr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1f580b403b92e7043b560858e323c066
https://doi.org/10.1182/blood.v59.5.1073.bloodjournal5951073

Phosphorylation of the oxidase-related 48K phosphoprotein family in the unusual autosomal cytochrome-negative and X-linked cytochrome-positive types of chronic granulomatous disease

Autor: N Okamura, SE Malawista, RL Roberts, H Rosen, HD Ochs, BM Babior, JT Curnutte

Publikováno v: Blood. 72(2)

Activation of 32P-loaded neutrophils with phorbol myristate acetate causes the labeling of a family of three 48K proteins that focus near neutral pH. The relationship between these phosphoproteins and the activation of the respiratory burst has been

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93fe022768c160f5d422c730bab2d527
https://pubmed.ncbi.nlm.nih.gov/3401601

A high frequency of distinct ATM gene mutations in ataxia-telangiectasia

Autor: Wright J, Teraoka S, Onengut S, aslihan tolun, Ra, Gatti, Hd, Ochs, Concannon P

Publikováno v: Europe PubMed Central

The clinical features of the autosomal recessive disorder ataxia-telangiectasia (AT) include a progressive cerebellar ataxia, hypersensitivity to ionizing radiation, and an increased susceptibility to malignancies. Epidemiological studies have sugges

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4b476e26319e9fddb28f307d3865ae98
http://europepmc.org/abstract/med/8808599

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.