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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
FullText Text:
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DbLabel: MEDLINE Ultimate
An: 41380100
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PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations.
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  Data: <searchLink fieldCode="AU" term="%22Kuehn+HS%22">Kuehn HS</searchLink>; Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Gil+Silva+AA%22">Gil Silva AA</searchLink>; Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Klangkalya+N%22">Klangkalya N</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Esteve-Sole+A%22">Esteve-Sole A</searchLink>; Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Goel+S%22">Goel S</searchLink>; Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Niemela+JE%22">Niemela JE</searchLink>; Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Stoddard+JL%22">Stoddard JL</searchLink>; Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Chong+H%22">Chong H</searchLink>; Division of Allergy and Immunology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA.<br /><searchLink fieldCode="AU" term="%22Williams+K%22">Williams K</searchLink>; Division of Pediatric Pulmonology, Allergy and Immunology, Department of Pediatrics, Medical University of South Carolina, Charleston, SC.<br /><searchLink fieldCode="AU" term="%22Ip+W%22">Ip W</searchLink>; Molecular and Cellular Immunology, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Framil+Seoane+M%22">Framil Seoane M</searchLink>; Immunology Department, Hospital Clínic, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Loganathan+SK%22">Loganathan SK</searchLink>; Department of Pediatrics, Christian Medical College and Hospital, Vellore, India.<br /><searchLink fieldCode="AU" term="%22Anantharachagan+A%22">Anantharachagan A</searchLink>; Department of Allergy and Clinical Immunology, Lancashire Teaching Hospitals NHS Foundation Trust, Preston, United Kingdom.<br /><searchLink fieldCode="AU" term="%22García-Soidán+A%22">García-Soidán A</searchLink>; Department of Immunology, Fundacion Instituto de Investigaciones Sanitarias de Canarias, University Hospital of Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, Spain.<br /><searchLink fieldCode="AU" term="%22Shaffren+S%22">Shaffren S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bindernagel+C%22">Bindernagel C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Mendez+P%22">Mendez P</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Miller+RZ%22">Miller RZ</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Abolhassani+H%22">Abolhassani H</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Hoytema+van+Konijnenburg+DP%22">Hoytema van Konijnenburg DP</searchLink>; Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Geerlinks+AV%22">Geerlinks AV</searchLink>; Division of Pediatric Hematology and Oncology, Western University and Children's Hospital, London Health Sciences Centre, London, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Cabanillas+D%22">Cabanillas D</searchLink>; Unidad de Inmunología, Hospital de Niños Sor María Ludovica, La Plata, Argentina.<br /><searchLink fieldCode="AU" term="%22Zonneveld-Huijssoon+E%22">Zonneveld-Huijssoon E</searchLink>; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Rutgers+A%22">Rutgers A</searchLink>; Department of Rheumatology and Clinical Immunology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Tangye+S%22">Tangye S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ma+C%22">Ma C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Grey+A%22">Grey A</searchLink>; Department of Clinical Immunology and Allergy, Royal Prince Alfred Hospital, Sydney, Australia.; Clinical Immunology and Allergy, Westmead Hospital, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22O'Young+P%22">O'Young P</searchLink>; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; Clinical Immunogenomics Research Consortium Australasia, Darlinghurst, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Aldave+Becerra+JC%22">Aldave Becerra JC</searchLink>; Allergy and Clinical Immunology Division, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru.<br /><searchLink fieldCode="AU" term="%22Lyons+JJ%22">Lyons JJ</searchLink>; Division of Allergy and Immunology, Department of Medicine, University of California San Diego, La Jolla, CA.; 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Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Unidade Local de Saúde São José, Lisbon, Portugal.; Comprehensive Health Research Center, NOVA Medical School, Lisbon, Portugal.<br /><searchLink fieldCode="AU" term="%22Platt+CD%22">Platt CD</searchLink>; Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Hammarström+L%22">Hammarström L</searchLink>; Division of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Routes+JM%22">Routes JM</searchLink>; Division of Asthma, Allergy and Clinical Immunology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI.<br /><searchLink fieldCode="AU" term="%22Verbsky+J%22">Verbsky J</searchLink>; Division of Pediatric Rheumatology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI.<br /><searchLink fieldCode="AU" term="%22Butte+MJ%22">Butte MJ</searchLink>; University of California Los Angeles, Los Angeles, CA.<br /><searchLink fieldCode="AU" term="%22Lesmana+H%22">Lesmana H</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Griffiths+WJH%22">Griffiths WJH</searchLink>; Liver Unit, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Kumararatne+D%22">Kumararatne D</searchLink>; Department of Clinical Immunology, Addenbrooke's Hospital, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hauck+F%22">Hauck F</searchLink>; Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig Maximilian University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Allende+LM%22">Allende LM</searchLink>; Department of Immunology, Hospital Universitario 12 de Octubre, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Rodríguez-Gallego+C%22">Rodríguez-Gallego C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Elfeky+R%22">Elfeky R</searchLink>; Department of Clinical Immunology, Royal Free Hospital, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Rubin+T%22">Rubin T</searchLink>; Section of Pediatric Clinical Immunology and Allergy, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada.<br /><searchLink fieldCode="AU" term="%22Boztug+K%22">Boztug K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Fleisher+TA%22">Fleisher TA</searchLink>; Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Rosenzweig+SD%22">Rosenzweig SD</searchLink>; Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD.
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            NameFull: Butte MJ
      – PersonEntity:
          Name:
            NameFull: Lesmana H
      – PersonEntity:
          Name:
            NameFull: Griffiths WJH
      – PersonEntity:
          Name:
            NameFull: Kumararatne D
      – PersonEntity:
          Name:
            NameFull: Hauck F
      – PersonEntity:
          Name:
            NameFull: Allende LM
      – PersonEntity:
          Name:
            NameFull: Rodríguez-Gallego C
      – PersonEntity:
          Name:
            NameFull: Elfeky R
      – PersonEntity:
          Name:
            NameFull: Rubin T
      – PersonEntity:
          Name:
            NameFull: Boztug K
      – PersonEntity:
          Name:
            NameFull: Fleisher TA
      – PersonEntity:
          Name:
            NameFull: Rosenzweig SD
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 10
              M: 03
              Text: 2026 Mar 10
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 2473-9537
          Numbering:
            – Type: volume
              Value: 10
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: Blood advances
              Type: main
ResultId 1