title: Exome sequencing reveals RAG1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease.
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.
authors.forename: Andreas
authors.initials: A
authors.lastname: Reiff
authors.forename: Alexander G
authors.initials: AG
authors.lastname: Bassuk
authors.forename: Joseph A
authors.initials: JA
authors.lastname: Church
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Campbell
authors.forename: Xinyu
authors.initials: X
authors.lastname: Bing
authors.forename: Polly J
authors.initials: PJ
authors.lastname: Ferguson
mesh_terms: D001323:Autoantibodies / Q000096:biosynthesis*; D002675:Child, Preschool; D059472:Exome / Q000235:genetics* / Q000276:immunology*; D006105:Granulomatous Disease, Chronic / Q000235:genetics / Q000276:immunology*; D018398:Homeodomain Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000276:immunology*; D008297:Male; D009154:Mutation / Q000276:immunology*; D010019:Osteomyelitis / Q000235:genetics / Q000276:immunology*; D017422:Sequence Analysis, DNA
chemical_list: D001323:Autoantibodies; D018398:Homeodomain Proteins; C064658:RAG-1 protein