Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations.
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ABSTRACT:
SUBMITTER: Chen K
PROVIDER: S-EPMC4107635 | biostudies-literature | 2014 Mar
REPOSITORIES: biostudies-literature
Publications
Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations.
Chen Karin K Wu Wilfred W Mathew Divij D Zhang Yuhua Y Browne Sarah K SK Rosen Lindsey B LB McManus Meghann P MP Pulsipher Michael A MA Yandell Mark M Bohnsack John F JF Jorde Lynn B LB Notarangelo Luigi D LD Walter Jolan E JE
The Journal of allergy and clinical immunology 20140125 3
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Project 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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