Hypomorphic Rag1 mutations alter the preimmune repertoire at early stages of lymphoid development-Reference-Cited by-同舟云学术

Hypomorphic Rag1 mutations alter the preimmune repertoire at early stages of lymphoid development

Published:2018-07-19 Issue:3 Volume:132 Page:281-292
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Ott de Bruin L. M.¹²,Bosticardo M.³,Barbieri A.⁴,Lin S. G.⁵,Rowe J. H.¹,Poliani P. L.⁶,Ching K.⁴,Eriksson D.⁷,Landegren N.⁷,Kämpe O.⁷,Manis J. P.⁴^ORCID,Notarangelo L. D.³^ORCID

Affiliation:

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

2. Department of Pediatric Immunology, Wilhelmina Children’s Hospital, Utrecht University Medical Center, Utrecht, The Netherlands;

3. Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;

4. Department of Laboratory Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA;

5. Program in Cellular and Molecular Medicine, Boston Children’s Hospital, Boston, MA;

6. Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; and

7. Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden

Abstract

Key PointsMice with hypomorphic mutations in the Rag1 C-terminal domain are a model of leaky combined immunodeficiency with autoantibodies. Hypomorphic C-terminal domain Rag1 mutations cause repertoire skewing at the earliest stages of B- and T-cell development.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/132/3/281/1372344/blood820985.pdf

Reference47 articles.

1. V(D)J recombination: mechanisms of initiation;Schatz;Annu Rev Genet,2011

2. Human RAG mutations: biochemistry and clinical implications;Notarangelo;Nat Rev Immunol,2016

3. RAG-1-deficient mice have no mature B and T lymphocytes;Mombaerts;Cell,1992

4. RAG mutations in human B cell-negative SCID;Schwarz;Science,1996

5. RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement;Shinkai;Cell,1992

Cited by 29 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. NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome;Science Immunology;2024-05-24

2. Transplantation after CD45-ADC corrects Rag1 immunodeficiency in congenic and haploidentical settings;Journal of Allergy and Clinical Immunology;2024-01

3. Partial correction of immunodeficiency by lentiviral vector gene therapy in mouse models carrying Rag1 hypomorphic mutations;Frontiers in Immunology;2023-11-13

4. Advances in gene therapy for inborn errors of immunity;Current Opinion in Allergy & Clinical Immunology;2023-10-13

5. Expanded microbiome niches of RAG-deficient patients;Cell Reports Medicine;2023-10