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Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.

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Title: Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.
Authors: Schmitz EG; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St Louis, St Louis, Mo., Paul AJ; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St Louis, St Louis, Mo., Ghosh R; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Md., Saucier N; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St Louis, St Louis, Mo., Kolicheski A; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St Louis, St Louis, Mo., Risma SI; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St Louis, St Louis, Mo., McDaniels KP; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St Louis, St Louis, Mo., Liu M; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St Louis, St Louis, Mo., Lewis KL; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Md., de Jesus AA; Laboratory of Clinical Immunology and Microbiology, NIAID, Bethesda, Md., Alehashemi S; Laboratory of Clinical Immunology and Microbiology, NIAID, Bethesda, Md., Fronick CC; McDonnell Genome Institute at Washington University School of Medicine, St Louis, Mo., Stein D; Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Dominguez D; Division of Rheumatology, Departments of Paediatrics and Immunology, Cell and Systems Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada., Hiraki LT; Division of Rheumatology, Genetics & Genome Biology, Research Insittute, The Hospital for Sick Children, Toronto, Ontario, Canada., Lee JH; Immune Dysregulation Program, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa., Norman S; Center for Cancer and Immunology Research, Children's National Hospital, Washington, DC., Peng CR; Center for Cancer and Immunology Research, Children's National Hospital, Washington, DC., Ward BR; Division of Allergy and Immunology, Children's National Hospital, Washington, DC., Pettiford LH; Division of Allergy and Immunology, Children's National Hospital, Washington, DC., Platt A; University of Virginia School of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Charlottesville, Va., Lawrence MG; University of Virginia School of Medicine, Department of Medicine, Division of Asthma allergy and Immunology, Charlottesville, Va., Rocco JM; Laboratory of Immunoregulation, NIAID, Bethesda, Md., Al-Herz W; Department of Pediatrics, College of Medicine, Kuwait University, Kuwait City, Kuwait., Zerbe CS; Laboratory of Clinical Immunology and Microbiology, NIAID, Bethesda, Md., Atkinson TP; Department of Pediatrics, Division of Allergy and Immunology, University of Alabama at Birmingham, Birmingham, Ala., Peng XP; New York Center for Rare Diseases; Division of Pediatric Genetic Medicine, Department of Pediatrics, The Children's Hospital at Montefiore, Bronx, NY; Division of Genomics, Department of Genetics, Albert Einstein College of Medicine, Bronx, NY., Allenspach EJ; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, Wash; Department of Pediatrics, University of Washington, Seattle, Wash., Hoytema van Konijnenburg DP; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass., Platt CD; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass., Elkins M; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass., Walter JE; Division of Allergy and Immunology, Departments of Pediatrics and Medicine, University of South Florida Morsani College of Medicine, Tampa, Fla; Division of Allergy and Immunology, Department of Medicine, Johns Hopkins All Children's Hospital, St Petersburg, Fla., Bleesing JJ; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio., Klion A; Laboratory of Parasitic Diseases, NIAID, Bethesda, Md., Ramaswami R; HIV and AIDS Malignancy Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Md., Uzel G; Laboratory of Clinical Immunology and Microbiology, NIAID, Bethesda, Md., Lionakis MS; Laboratory of Clinical Immunology and Microbiology, NIAID, Bethesda, Md., Dissanayake D; Division of Rheumatology, Departments of Paediatrics and Immunology, Cell and Systems Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada., Su HC; Laboratory of Clinical Immunology and Microbiology, NIAID, Bethesda, Md., Cortese I; Experimental Immunotherapeutics Unit, National Institute of Neurological Disorders and Stroke, Bethesda, Md., Fuss IJ; Laboratory of Clinical Immunology and Microbiology, NIAID, Bethesda, Md., Bergerson JRE; Laboratory of Clinical Immunology and Microbiology, NIAID, Bethesda, Md., Dropulic L; Vaccine Research Center, NIAID, Bethesda, Md., Sereti I; Laboratory of Immunoregulation, NIAID, Bethesda, Md., Lisco A; Laboratory of Immunoregulation, NIAID, Bethesda, Md., Itan Y; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY; The Windreich Department of Artificial Intelligence and Human Health, Icahn School of Medicine at Mount Sinai, New York, NY; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY., Milner JD; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY; Division of Pediatric Allergy, Immunology and Rheumatology, Department of Pediatrics, Columbia University, New York, NY., Bogunovic D; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY; Division of Pediatric Allergy, Immunology and Rheumatology, Department of Pediatrics, Columbia University, New York, NY; Columbia Center for Genetic Errors of Immunity, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY., Goldbach-Mansky R; Laboratory of Clinical Immunology and Microbiology, NIAID, Bethesda, Md., Rao VK; Laboratory of Clinical Immunology and Microbiology, NIAID, Bethesda, Md., Delmonte OM; Laboratory of Clinical Immunology and Microbiology, NIAID, Bethesda, Md., Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, NIAID, Bethesda, Md., Keller MD; Division of Allergy and Immunology, Children's National Hospital, Washington, DC., Durkee-Shock J; Laboratory of Infectious Diseases, NIAID, Bethesda, Md., Cohen JI; Laboratory of Infectious Diseases, NIAID, Bethesda, Md., Similuk MN; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Md., Holland SM; Laboratory of Clinical Immunology and Microbiology, NIAID, Bethesda, Md., Griffith M; Department of Medicine, Division of Oncology, Washington University in St Louis, St Louis, Mo., Griffith OL; Department of Medicine, Division of Oncology, Washington University in St Louis, St Louis, Mo., Vogel TP; Division of Rheumatology, Department of Pediatrics, Baylor College of Medicine and Center for Human Immunobiology, Texas Children's Hospital, Houston, Tex., Canna S; Immune Dysregulation Program, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa., Freeman AF; Laboratory of Clinical Immunology and Microbiology, NIAID, Bethesda, Md., Walkiewicz MA; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Md., Cooper MA; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St Louis, St Louis, Mo. Electronic address: Cooper_m@wustl.edu.
Source: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2026 May; Vol. 157 (5), pp. 1179-1194. Date of Electronic Publication: 2026 Feb 05.
Publication Type: Journal Article
Journal Info: Publisher: Mosby Country of Publication: United States NLM ID: 1275002 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6825 (Electronic) Linking ISSN: 00916749 NLM ISO Abbreviation: J Allergy Clin Immunol Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.
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  Data: <searchLink fieldCode="AU" term="%22Schmitz+EG%22">Schmitz EG</searchLink>; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St Louis, St Louis, Mo.<br /><searchLink fieldCode="AU" term="%22Paul+AJ%22">Paul AJ</searchLink>; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St Louis, St Louis, Mo.<br /><searchLink fieldCode="AU" term="%22Ghosh+R%22">Ghosh R</searchLink>; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Saucier+N%22">Saucier N</searchLink>; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St Louis, St Louis, Mo.<br /><searchLink fieldCode="AU" term="%22Kolicheski+A%22">Kolicheski A</searchLink>; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St Louis, St Louis, Mo.<br /><searchLink fieldCode="AU" term="%22Risma+SI%22">Risma SI</searchLink>; 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Center for Cancer and Immunology Research, Children's National Hospital, Washington, DC.<br /><searchLink fieldCode="AU" term="%22Peng+CR%22">Peng CR</searchLink>; Center for Cancer and Immunology Research, Children's National Hospital, Washington, DC.<br /><searchLink fieldCode="AU" term="%22Ward+BR%22">Ward BR</searchLink>; Division of Allergy and Immunology, Children's National Hospital, Washington, DC.<br /><searchLink fieldCode="AU" term="%22Pettiford+LH%22">Pettiford LH</searchLink>; Division of Allergy and Immunology, Children's National Hospital, Washington, DC.<br /><searchLink fieldCode="AU" term="%22Platt+A%22">Platt A</searchLink>; University of Virginia School of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Charlottesville, Va.<br /><searchLink fieldCode="AU" term="%22Lawrence+MG%22">Lawrence MG</searchLink>; University of Virginia School of Medicine, Department of Medicine, Division of Asthma allergy and Immunology, Charlottesville, Va.<br /><searchLink fieldCode="AU" term="%22Rocco+JM%22">Rocco JM</searchLink>; Laboratory of Immunoregulation, NIAID, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Al-Herz+W%22">Al-Herz W</searchLink>; Department of Pediatrics, College of Medicine, Kuwait University, Kuwait City, Kuwait.<br /><searchLink fieldCode="AU" term="%22Zerbe+CS%22">Zerbe CS</searchLink>; Laboratory of Clinical Immunology and Microbiology, NIAID, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Atkinson+TP%22">Atkinson TP</searchLink>; Department of Pediatrics, Division of Allergy and Immunology, University of Alabama at Birmingham, Birmingham, Ala.<br /><searchLink fieldCode="AU" term="%22Peng+XP%22">Peng XP</searchLink>; New York Center for Rare Diseases; Division of Pediatric Genetic Medicine, Department of Pediatrics, The Children's Hospital at Montefiore, Bronx, NY; Division of Genomics, Department of Genetics, Albert Einstein College of Medicine, Bronx, NY.<br /><searchLink fieldCode="AU" term="%22Allenspach+EJ%22">Allenspach EJ</searchLink>; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, Wash; Department of Pediatrics, University of Washington, Seattle, Wash.<br /><searchLink fieldCode="AU" term="%22Hoytema+van+Konijnenburg+DP%22">Hoytema van Konijnenburg DP</searchLink>; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass.<br /><searchLink fieldCode="AU" term="%22Platt+CD%22">Platt CD</searchLink>; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass.<br /><searchLink fieldCode="AU" term="%22Elkins+M%22">Elkins M</searchLink>; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass.<br /><searchLink fieldCode="AU" term="%22Walter+JE%22">Walter JE</searchLink>; Division of Allergy and Immunology, Departments of Pediatrics and Medicine, University of South Florida Morsani College of Medicine, Tampa, Fla; Division of Allergy and Immunology, Department of Medicine, Johns Hopkins All Children's Hospital, St Petersburg, Fla.<br /><searchLink fieldCode="AU" term="%22Bleesing+JJ%22">Bleesing JJ</searchLink>; 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The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY; The Windreich Department of Artificial Intelligence and Human Health, Icahn School of Medicine at Mount Sinai, New York, NY; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY.<br /><searchLink fieldCode="AU" term="%22Milner+JD%22">Milner JD</searchLink>; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY; Division of Pediatric Allergy, Immunology and Rheumatology, Department of Pediatrics, Columbia University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Bogunovic+D%22">Bogunovic D</searchLink>; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY; Division of Pediatric Allergy, Immunology and Rheumatology, Department of Pediatrics, Columbia University, New York, NY; Columbia Center for Genetic Errors of Immunity, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY.<br /><searchLink fieldCode="AU" term="%22Goldbach-Mansky+R%22">Goldbach-Mansky R</searchLink>; Laboratory of Clinical Immunology and Microbiology, NIAID, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Rao+VK%22">Rao VK</searchLink>; Laboratory of Clinical Immunology and Microbiology, NIAID, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Delmonte+OM%22">Delmonte OM</searchLink>; Laboratory of Clinical Immunology and Microbiology, NIAID, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Notarangelo+LD%22">Notarangelo LD</searchLink>; Laboratory of Clinical Immunology and Microbiology, NIAID, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Keller+MD%22">Keller MD</searchLink>; Division of Allergy and Immunology, Children's National Hospital, Washington, DC.<br /><searchLink fieldCode="AU" term="%22Durkee-Shock+J%22">Durkee-Shock J</searchLink>; 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Immune Dysregulation Program, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa.<br /><searchLink fieldCode="AU" term="%22Freeman+AF%22">Freeman AF</searchLink>; Laboratory of Clinical Immunology and Microbiology, NIAID, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Walkiewicz+MA%22">Walkiewicz MA</searchLink>; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Cooper+MA%22">Cooper MA</searchLink>; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St Louis, St Louis, Mo. 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  Data: <searchLink fieldCode="JN" term="%221275002%22">The Journal of allergy and clinical immunology</searchLink> [J Allergy Clin Immunol] 2026 May; Vol. 157 (5), pp. 1179-1194. <i>Date of Electronic Publication: </i>2026 Feb 05.
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          Dates:
            – D: 01
              M: 05
              Text: 2026 May
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1097-6825
          Numbering:
            – Type: volume
              Value: 157
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: The Journal of allergy and clinical immunology
              Type: main
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