Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα)-Reference-Cited by-同舟云学术

Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα)

Published:2021-09-24 Issue:63 Volume:6 Page:
ISSN:2470-9468
Container-title:Science Immunology
language:en
Short-container-title:Sci. Immunol.

Author:

Bainter Wayne¹^ORCID,Lougaris Vassilios²,Wallace Jacqueline G.¹^ORCID,Badran Yousef¹,Hoyos-Bachiloglu Rodrigo¹^ORCID,Peters Zachary¹,Wilkie Hazel¹^ORCID,Das Mrinmoy¹,Janssen Erin¹^ORCID,Beano Abdallah¹^ORCID,Farhat Khaoula Ben¹^ORCID,Kam Christy¹^ORCID,Bercich Luisa³,Incardona Paolo³^ORCID,Villanacci Vincenzo³,Bondioni Maria Pia⁴,Meini Antonella²,Baronio Manuela²,Abarzua Phammela⁵^ORCID,Parolini Silvia²,Tabellini Giovanna²^ORCID,Maio Stefano⁶^ORCID,Schmidt Birgitta⁷,Goldsmith Jeffrey D.⁷^ORCID,Murphy George⁵,Hollander Georg⁶⁸⁹^ORCID,Plebani Alessandro²^ORCID,Chou Janet¹^ORCID,Geha Raif S.¹^ORCID

Affiliation:

1. Division of Immunology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.

2. Pediatrics Clinic, Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.

3. Department of Pathology, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.

4. Department of Pediatric Radiology, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.

5. Department of Dermatology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA.

6. Department of Paediatrics, the Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

7. Department of Pathology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.

8. Paediatric Immunology, Department of Biomedicine, University of Basel, University Children’s Hospital Basel, Basel, Switzerland.

9. Department of Biosystems Science and Engineering, ETH Zurich, Basel, Switzerland.

Abstract

A mutation in human IKKα compromises noncanonical NF-κB signaling resulting in primary immunodeficiency associated with autoimmunity.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine,Immunology

Reference86 articles.

1. Stromal and hematopoietic cells in secondary lymphoid organs: partners in immunity

2. The noncanonical NF-κB pathway

3. NF-κB in inflammation and renal diseases

4. Shared Principles in NF-κB Signaling

5. The IKK Complex, a Central Regulator of NF- B Activation

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Inherited human RelB deficiency impairs innate and adaptive immunity to infection;Proceedings of the National Academy of Sciences;2024-09-04

2. Defective kinase activity of IKKα leads to combined immunodeficiency and disruption of immune tolerance in humans;2024-07-17

3. Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye;Journal of Clinical Immunology;2024-07-02

4. Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation;2024-05-17

5. OTULIN Can Improve Spinal Cord Injury by the NF-κB and Wnt/β-Catenin Signaling Pathways;Molecular Neurobiology;2024-04-02