Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease

We describe a boy who developed autoinflammatory (chronic sterile multifocal osteomyelitis) and autoimmune (autoimmune cytopenias; vitiligo) phenotypes who subsequently developed disseminated granulomatous disease. Whole exome sequencing revealed homozygous RAG1 mutations thus expanding the spectrum...

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Autores principales: Reiff, Andreas, Bassuk, Alexander G., Church, Joseph A., Campbell, Elizabeth, Bing, Xinyu, Ferguson, Polly J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2013
Materias:
Astute Clinician Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873094/
https://www.ncbi.nlm.nih.gov/pubmed/24122031
http://dx.doi.org/10.1007/s10875-013-9953-7
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author Reiff, Andreas
Bassuk, Alexander G.
Church, Joseph A.
Campbell, Elizabeth
Bing, Xinyu
Ferguson, Polly J.
author_facet Reiff, Andreas
Bassuk, Alexander G.
Church, Joseph A.
Campbell, Elizabeth
Bing, Xinyu
Ferguson, Polly J.
author_sort Reiff, Andreas
collection PubMed
description We describe a boy who developed autoinflammatory (chronic sterile multifocal osteomyelitis) and autoimmune (autoimmune cytopenias; vitiligo) phenotypes who subsequently developed disseminated granulomatous disease. Whole exome sequencing revealed homozygous RAG1 mutations thus expanding the spectrum of combined immunodeficiency with autoimmunity and granuloma that can occur with RAG deficiency.
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spelling pubmed-38730942014-11-01 Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease Reiff, Andreas Bassuk, Alexander G. Church, Joseph A. Campbell, Elizabeth Bing, Xinyu Ferguson, Polly J. J Clin Immunol Astute Clinician Report We describe a boy who developed autoinflammatory (chronic sterile multifocal osteomyelitis) and autoimmune (autoimmune cytopenias; vitiligo) phenotypes who subsequently developed disseminated granulomatous disease. Whole exome sequencing revealed homozygous RAG1 mutations thus expanding the spectrum of combined immunodeficiency with autoimmunity and granuloma that can occur with RAG deficiency. Springer US 2013-10-12 2013 /pmc/articles/PMC3873094/ /pubmed/24122031 http://dx.doi.org/10.1007/s10875-013-9953-7 Text en © Springer Science+Business Media New York 2013 This article is made available via the PMC Open Access Subset for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic.
spellingShingle Astute Clinician Report
Reiff, Andreas
Bassuk, Alexander G.
Church, Joseph A.
Campbell, Elizabeth
Bing, Xinyu
Ferguson, Polly J.
Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease
title Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease
title_full Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease
title_fullStr Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease
title_full_unstemmed Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease
title_short Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease
title_sort exome sequencing reveals rag1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease
topic Astute Clinician Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873094/
https://www.ncbi.nlm.nih.gov/pubmed/24122031
http://dx.doi.org/10.1007/s10875-013-9953-7
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