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01-11-2013 | Astute Clinician Report

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

Authors: Andreas Reiff, Alexander G. Bassuk, Joseph A. Church, Elizabeth Campbell, Xinyu Bing, Polly J. Ferguson

Published in: Journal of Clinical Immunology | Issue 8/2013

Abstract

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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Title: Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease
Authors: Andreas Reiff
Alexander G. Bassuk
Joseph A. Church
Elizabeth Campbell
Xinyu Bing
Polly J. Ferguson
Publication date: 01-11-2013
Publisher: Springer US
Published in: Journal of Clinical Immunology / Issue 8/2013
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-013-9953-7

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