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Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease |
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| Authors: | Andreas Reiff Alexander G. Bassuk Joseph A. Church Elizabeth Campbell Xinyu Bing Polly J. Ferguson |
| Affiliation: | 1. The Department of Pediatrics, Children’s Hospital Los Angeles and the Keck School of Medicine, University of Southern California, Los Angeles, CA, USA 2. The Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USA 3. Department of Pediatrics, Division of Rheumatology, University of Iowa Carver College of Medicine, 200 Hawkins Drive, 4038 Boyd Tower, Iowa City, IA, 52240, USA |
| 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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