Exome sequencing reveals RAG1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease

Andreas Reiff; Alexander G Bassuk; Joseph A Church; Elizabeth Campbell; Xinyu Bing; Polly J Ferguson

doi:10.1007/s10875-013-9953-7

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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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Exome sequencing reveals RAG1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease

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

Journal of clinical immunology, Vol.33(8), pp.1289-1292

11/2013

DOI: 10.1007/s10875-013-9953-7

PMCID: PMC3873094

PMID: 24122031

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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.

Recombinase activating gene (RAG)

Granulomatous disease

Chronic recurrent multifocal osteomyelitis (CRMO)

Autoimmune hemolytic anemia

Immune deficiency

Details

Title: Subtitle: Exome sequencing reveals RAG1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease
Creators: Andreas Reiff - The Department of Pediatrics, Children’s Hospital Los Angeles and the Keck School of Medicine, University of Southern California, Los Angeles, CA
Alexander G Bassuk - The Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA
Joseph A Church - The Department of Pediatrics, Children’s Hospital Los Angeles and the Keck School of Medicine, University of Southern California, Los Angeles, CA
Elizabeth Campbell - The Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA
Xinyu Bing - The Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA
Polly J Ferguson - The Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA
Resource Type: Journal article
Publication Details: Journal of clinical immunology, Vol.33(8), pp.1289-1292
DOI: 10.1007/s10875-013-9953-7
PMID: 24122031
PMCID: PMC3873094
ISSN: 0271-9142
eISSN: 1573-2592
Grant note: R01 AR059703 || AR / National Institute of Arthritis and Musculoskeletal and Skin Diseases : NIAMS
Language: English
Date published: 11/2013
Academic Unit: Neurology; Critical Care; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Rheumatology, Allergy, and Immunology; Neurology (Pediatrics)
Record Identifier: 9984020501002771

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