Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium.
Department of Pathology, University of Utah, Salt Lake City, Utah; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah. Electronic address: attila.kumanovics@path.utah.edu.
Attila
A
Kumánovics
Division of Immunology, Children's Hospital, Harvard Medical School, Boston, Mass.
Yu Nee
YN
Lee
ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah.
Devin W
DW
Close
ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah.
Emily M
EM
Coonrod
Division of Allergy and Immunology, Massachusetts General Hospital for Children, Harvard Medical School, Boston, Mass.
Boglarka
B
Ujhazi
Division of Allergy and Immunology, Department of Pediatrics, University of Utah, Salt Lake City, Utah.
Karin
K
Chen
Analytic and Translational Genetics Unit, Division of Allergy and Immunology, Massachusetts General Hospital for Children, Harvard Medical School, Boston, Mass.
Daniel G
DG
MacArthur
United St Laszlo and St Istvan Hospital, Budapest, Hungary.
Gergely
G
Krivan
Division of Immunology, Children's Hospital, Harvard Medical School, Boston, Mass.
Luigi D
LD
Notarangelo
Division of Immunology, Children's Hospital, Harvard Medical School, Boston, Mass; Division of Allergy and Immunology, Massachusetts General Hospital for Children, Harvard Medical School, Boston, Mass. Electronic address: jewalter@mgh.harvard.edu.
Jolan E
JE
Walter
D004268:DNA-Binding Proteins / Q000235:genetics* / Q000276:immunology; D030561:Databases, Nucleic Acid; D059472:Exome; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics* / Q000276:immunology; D006801:Humans; D015994:Incidence; D007223:Infant; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics* / Q000276:immunology; D016511:Severe Combined Immunodeficiency / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology
D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; C499311:RAG2 protein, human; C064658:RAG-1 protein