Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations.

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Title: Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations.
Authors: Kuehn HS; Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD., Gil Silva AA; Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD., Klangkalya N; Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD.; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Esteve-Sole A; Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD., Goel S; Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD., Niemela JE; Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD., Stoddard JL; Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD., Chong H; Division of Allergy and Immunology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA., Williams K; Division of Pediatric Pulmonology, Allergy and Immunology, Department of Pediatrics, Medical University of South Carolina, Charleston, SC., Ip W; Molecular and Cellular Immunology, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Framil Seoane M; Immunology Department, Hospital Clínic, Barcelona, Spain., Loganathan SK; Department of Pediatrics, Christian Medical College and Hospital, Vellore, India., Anantharachagan A; Department of Allergy and Clinical Immunology, Lancashire Teaching Hospitals NHS Foundation Trust, Preston, United Kingdom., García-Soidán A; Department of Immunology, Fundacion Instituto de Investigaciones Sanitarias de Canarias, University Hospital of Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, Spain., Shaffren S; Johns Hopkins All Children's Hospital, St. Petersburg, FL.; Department of Pediatrics, University of South Florida Morsani College of Medicine, Tampa, FL.; Division of Allergy and Immunology, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL., Bindernagel C; Department of Pediatrics, University of South Florida Morsani College of Medicine, Tampa, FL.; Division of Allergy and Immunology, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL., Mendez P; Department of Pediatrics, University of South Florida Morsani College of Medicine, Tampa, FL.; Division of Allergy and Immunology, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL., Miller RZ; Department of Pediatrics, University of South Florida Morsani College of Medicine, Tampa, FL.; Division of Allergy and Immunology, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL., Abolhassani H; Division of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran., Hoytema van Konijnenburg DP; Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, MA., Geerlinks AV; Division of Pediatric Hematology and Oncology, Western University and Children's Hospital, London Health Sciences Centre, London, Ontario, Canada., Cabanillas D; Unidad de Inmunología, Hospital de Niños Sor María Ludovica, La Plata, Argentina., Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Rutgers A; Department of Rheumatology and Clinical Immunology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Tangye S; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales Sydney, Kensington, NSW, Australia.; Clinical Immunogenomics Research Consortium Australasia, Darlinghurst, NSW, Australia., Ma C; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales Sydney, Kensington, NSW, Australia.; Clinical Immunogenomics Research Consortium Australasia, Darlinghurst, NSW, Australia., Grey A; Department of Clinical Immunology and Allergy, Royal Prince Alfred Hospital, Sydney, Australia.; Clinical Immunology and Allergy, Westmead Hospital, Sydney, Australia., O'Young P; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; Clinical Immunogenomics Research Consortium Australasia, Darlinghurst, NSW, Australia., Aldave Becerra JC; Allergy and Clinical Immunology Division, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru., Lyons JJ; Division of Allergy and Immunology, Department of Medicine, University of California San Diego, La Jolla, CA.; Veterans Affairs San Diego Healthcare System, La Jolla, CA., White AA; Division of Allergy, Asthma and Immunology, Scripps Clinic, San Diego, CA., Claiborne M; Division of Allergy, Asthma and Immunology, Scripps Clinic, San Diego, CA., Doroudchi MA; Modena Health, La Jolla, CA., Modena BD; Modena Health, La Jolla, CA., Milner JD; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY., Solanich X; Internal Medicine Department, University Hospital of Bellvitge, Hospitalet de Llobregat, Barcelona, Spain., Farela Neves J; Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Unidade Local de Saúde São José, Lisbon, Portugal.; Comprehensive Health Research Center, NOVA Medical School, Lisbon, Portugal., Platt CD; Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, MA., Hammarström L; Division of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Routes JM; Division of Asthma, Allergy and Clinical Immunology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI., Verbsky J; Division of Pediatric Rheumatology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI., Butte MJ; University of California Los Angeles, Los Angeles, CA., Lesmana H; Department of Medical Genetics and Genomics, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, OH.; Department of Pediatric Hematology, Oncology, and Bone Marrow Transplantation, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, OH., Griffiths WJH; Liver Unit, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Kumararatne D; Department of Clinical Immunology, Addenbrooke's Hospital, Cambridge, United Kingdom., Hauck F; Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilian University of Munich, Munich, Germany., Allende LM; Department of Immunology, Hospital Universitario 12 de Octubre, Madrid, Spain., Rodríguez-Gallego C; Department of Immunology, Fundacion Instituto de Investigaciones Sanitarias de Canarias, University Hospital of Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, Spain.; Department of Medical and Surgical Sciences, School of Medicine, University of Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain.; Department of Clinical Sciences, University Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid, Spain., Elfeky R; Department of Clinical Immunology, Royal Free Hospital, London, United Kingdom., Rubin T; Section of Pediatric Clinical Immunology and Allergy, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada., Boztug K; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Clinic for Pediatric Immunology and Rheumatology, Center for Pediatrics and Adolescent Medicine, University Hospital Bonn, Bonn, Germany., Fleisher TA; Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD., Rosenzweig SD; Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD.
Source: Blood advances [Blood Adv] 2026 Mar 10; Vol. 10 (5), pp. 1522-1536.
Publication Type: Journal Article
Journal Info: Publisher: American Society of Hematology Country of Publication: United States NLM ID: 101698425 Publication Model: Print Cited Medium: Internet ISSN: 2473-9537 (Electronic) Linking ISSN: 24739529 NLM ISO Abbreviation: Blood Adv Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2473-9537
DOI:10.1182/bloodadvances.2025017243