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Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα).
Bainter, Wayne; Lougaris, Vassilios; Wallace, Jacqueline G; Badran, Yousef; Hoyos-Bachiloglu, Rodrigo; Peters, Zachary; Wilkie, Hazel; Das, Mrinmoy; Janssen, Erin; Beano, Abdallah; Farhat, Khaoula Ben; Kam, Christy; Bercich, Luisa; Incardona, Paolo; Villanacci, Vincenzo; Bondioni, Maria Pia; Meini, Antonella; Baronio, Manuela; Abarzua, Phammela; Parolini, Silvia; Tabellini, Giovanna; Maio, Stefano; Schmidt, Birgitta; Goldsmith, Jeffrey D; Murphy, George; Hollander, Georg; Plebani, Alessandro; Chou, Janet; Geha, Raif S.
Affiliation
  • Bainter W; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Lougaris V; Pediatrics Clinic, Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
  • Wallace JG; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Badran Y; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Hoyos-Bachiloglu R; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Peters Z; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Wilkie H; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Das M; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Janssen E; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Beano A; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Farhat KB; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Kam C; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Bercich L; Department of Pathology, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Incardona P; Department of Pathology, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Villanacci V; Department of Pathology, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Bondioni MP; Department of Pediatric Radiology, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Meini A; Pediatrics Clinic, Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
  • Baronio M; Pediatrics Clinic, Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
  • Abarzua P; Department of Dermatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
  • Parolini S; Pediatrics Clinic, Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
  • Tabellini G; Pediatrics Clinic, Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
  • Maio S; Department of Paediatrics, the Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Schmidt B; Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Goldsmith JD; Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Murphy G; Department of Dermatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
  • Hollander G; Department of Paediatrics, the Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Plebani A; Paediatric Immunology, Department of Biomedicine, University of Basel, University Children's Hospital Basel, Basel, Switzerland.
  • Chou J; Department of Biosystems Science and Engineering, ETH Zurich, Basel, Switzerland.
  • Geha RS; Pediatrics Clinic, Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
Sci Immunol ; 6(63): eabf6723, 2021 Sep 17.
Article in En | MEDLINE | ID: mdl-34533979
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autoimmunity / Mutation, Missense / I-kappa B Kinase Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Sci Immunol Year: 2021 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autoimmunity / Mutation, Missense / I-kappa B Kinase Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Sci Immunol Year: 2021 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos