A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristics.

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Title: A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristics.
Authors: Ham H; Department of Immunology, Mayo Clinic, Rochester, Minn., Isham CR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn., Ristagno EH; Department of Pediatrics, Mayo Clinic, Rochester, Minn., Correia C; Department of Pharmacology, Mayo Clinic, Rochester, Minn., Ennis SM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn., Kandasamy RK; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minn., Garapati K; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn; Manipal Academy of Higher Education, Manipal, India., Zhang C; Department of Pharmacology, Mayo Clinic, Rochester, Minn., Kohlhagen MC; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn., Sadighi Akha E; Oxford, United Kingdom., Rodriguez-Quevedo MF; Department of Immunology, Mayo Clinic, Rochester, Minn., Schultz DF; Department of Immunology, Mayo Clinic, Rochester, Minn., Chen B; Roy J. Carver Department of Biochemistry, Biophysics, and Molecular Biology, Iowa State University, Ames, Iowa., Boyce TG; Department of Pediatrics, Mayo Clinic, Rochester, Minn., Gregory SW; Department of Pediatrics, Mayo Clinic, Rochester, Minn., Kohorst MA; Department of Pediatrics, Mayo Clinic, Rochester, Minn., Dasari S; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn., Murray DL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn., Halling KC; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn., Kipp BR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn., Kumánovics A; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn., Li H; Department of Pharmacology, Mayo Clinic, Rochester, Minn., Pandey A; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn., Billadeau DD; Department of Immunology, Mayo Clinic, Rochester, Minn. Electronic address: billadeau.daniel@mayo.edu., Sadighi Akha AA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn. Electronic address: sadighiakha.amir@mayo.edu.
Source: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2025 Jun; Vol. 155 (6), pp. 2022-2037. Date of Electronic Publication: 2025 Mar 11.
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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  Data: A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristics.
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  Data: <searchLink fieldCode="AU" term="%22Ham+H%22">Ham H</searchLink>; Department of Immunology, Mayo Clinic, Rochester, Minn.<br /><searchLink fieldCode="AU" term="%22Isham+CR%22">Isham CR</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn.<br /><searchLink fieldCode="AU" term="%22Ristagno+EH%22">Ristagno EH</searchLink>; Department of Pediatrics, Mayo Clinic, Rochester, Minn.<br /><searchLink fieldCode="AU" term="%22Correia+C%22">Correia C</searchLink>; Department of Pharmacology, Mayo Clinic, Rochester, Minn.<br /><searchLink fieldCode="AU" term="%22Ennis+SM%22">Ennis SM</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn.<br /><searchLink fieldCode="AU" term="%22Kandasamy+RK%22">Kandasamy RK</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minn.<br /><searchLink fieldCode="AU" term="%22Garapati+K%22">Garapati K</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn; Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Zhang+C%22">Zhang C</searchLink>; Department of Pharmacology, Mayo Clinic, Rochester, Minn.<br /><searchLink fieldCode="AU" term="%22Kohlhagen+MC%22">Kohlhagen MC</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn.<br /><searchLink fieldCode="AU" term="%22Sadighi+Akha+E%22">Sadighi Akha E</searchLink>; Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Rodriguez-Quevedo+MF%22">Rodriguez-Quevedo MF</searchLink>; Department of Immunology, Mayo Clinic, Rochester, Minn.<br /><searchLink fieldCode="AU" term="%22Schultz+DF%22">Schultz DF</searchLink>; Department of Immunology, Mayo Clinic, Rochester, Minn.<br /><searchLink fieldCode="AU" term="%22Chen+B%22">Chen B</searchLink>; Roy J. Carver Department of Biochemistry, Biophysics, and Molecular Biology, Iowa State University, Ames, Iowa.<br /><searchLink fieldCode="AU" term="%22Boyce+TG%22">Boyce TG</searchLink>; Department of Pediatrics, Mayo Clinic, Rochester, Minn.<br /><searchLink fieldCode="AU" term="%22Gregory+SW%22">Gregory SW</searchLink>; Department of Pediatrics, Mayo Clinic, Rochester, Minn.<br /><searchLink fieldCode="AU" term="%22Kohorst+MA%22">Kohorst MA</searchLink>; Department of Pediatrics, Mayo Clinic, Rochester, Minn.<br /><searchLink fieldCode="AU" term="%22Dasari+S%22">Dasari S</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn.<br /><searchLink fieldCode="AU" term="%22Murray+DL%22">Murray DL</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn.<br /><searchLink fieldCode="AU" term="%22Halling+KC%22">Halling KC</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn.<br /><searchLink fieldCode="AU" term="%22Kipp+BR%22">Kipp BR</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn.<br /><searchLink fieldCode="AU" term="%22Kumánovics+A%22">Kumánovics A</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn.<br /><searchLink fieldCode="AU" term="%22Li+H%22">Li H</searchLink>; Department of Pharmacology, Mayo Clinic, Rochester, Minn.<br /><searchLink fieldCode="AU" term="%22Pandey+A%22">Pandey A</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn.<br /><searchLink fieldCode="AU" term="%22Billadeau+DD%22">Billadeau DD</searchLink>; Department of Immunology, Mayo Clinic, Rochester, Minn. Electronic address: billadeau.daniel@mayo.edu.<br /><searchLink fieldCode="AU" term="%22Sadighi+Akha+AA%22">Sadighi Akha AA</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn. Electronic address: sadighiakha.amir@mayo.edu.
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  Data: <searchLink fieldCode="JN" term="%221275002%22">The Journal of allergy and clinical immunology</searchLink> [J Allergy Clin Immunol] 2025 Jun; Vol. 155 (6), pp. 2022-2037. <i>Date of Electronic Publication: </i>2025 Mar 11.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Mosby%22">Mosby </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>1275002 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1097-6825 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200916749%22">00916749 </searchLink><i>NLM ISO Abbreviation: </i>J Allergy Clin Immunol <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.jaci.2024.11.041
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      – Code: eng
        Text: English
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        StartPage: 2022
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              Text: 2025 Jun
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