Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα)
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- Wayne Bainter
- Division of Immunology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.
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- Vassilios Lougaris
- Pediatrics Clinic, Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
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- Jacqueline G. Wallace
- Division of Immunology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.
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- Yousef Badran
- Division of Immunology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.
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- Rodrigo Hoyos-Bachiloglu
- Division of Immunology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.
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- Zachary Peters
- Division of Immunology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.
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- Hazel Wilkie
- Division of Immunology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.
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- Mrinmoy Das
- Division of Immunology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.
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- Erin Janssen
- Division of Immunology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.
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- Abdallah Beano
- Division of Immunology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.
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- Khaoula Ben Farhat
- Division of Immunology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.
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- Christy Kam
- Division of Immunology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.
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- Luisa Bercich
- Department of Pathology, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
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- Paolo Incardona
- Department of Pathology, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
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- Vincenzo Villanacci
- Department of Pathology, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
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- Maria Pia Bondioni
- Department of Pediatric Radiology, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
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- Antonella Meini
- Pediatrics Clinic, Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
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- Manuela Baronio
- Pediatrics Clinic, Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
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- Phammela Abarzua
- Department of Dermatology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA.
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- Silvia Parolini
- Pediatrics Clinic, Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
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- Giovanna Tabellini
- Pediatrics Clinic, Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
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- Stefano Maio
- Department of Paediatrics, the Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
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- Birgitta Schmidt
- Department of Pathology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.
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- Jeffrey D. Goldsmith
- Department of Pathology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.
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- George Murphy
- Department of Dermatology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA.
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- Georg Hollander
- Department of Paediatrics, the Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
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- Alessandro Plebani
- Pediatrics Clinic, Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
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- Janet Chou
- Division of Immunology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.
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- Raif S. Geha
- Division of Immunology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.
説明
<jats:p>A mutation in human IKKα compromises noncanonical NF-κB signaling resulting in primary immunodeficiency associated with autoimmunity.</jats:p>
収録刊行物
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- Science Immunology
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Science Immunology 6 (63), eabf6723-, 2021-09-24
American Association for the Advancement of Science (AAAS)