[HTML][HTML] Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated …
A Reiff, AG Bassuk, JA Church, E Campbell… - Journal of clinical …, 2013 - Springer
A Reiff, AG Bassuk, JA Church, E Campbell, X Bing, PJ Ferguson
Journal of clinical immunology, 2013•SpringerWe 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.
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.
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.
Springer