Somatic NOD2 mosaicism in Blau syndrome.
Department of Pediatric Rheumatology, Hospital Universitario 12 de Octubre, Madrid, Spain.
Jaime
J
de Inocencio
Department of Immunology-CDB, Hospital Clínic-IDIBAPS, Barcelona, Spain.
Anna
A
Mensa-Vilaro
Department of Pediatric Ophthalmology, Hospital Universitario 12 de Octubre, Madrid, Spain.
Pilar
P
Tejada-Palacios
Department of Pediatric Rheumatology, Hospital Universitario 12 de Octubre, Madrid, Spain.
Eugenia
E
Enriquez-Merayo
Department of Immunology-CDB, Hospital Clínic-IDIBAPS, Barcelona, Spain.
Eva
E
González-Roca
Institut Municipal d'Investigació Mèdica, Hospital del Mar, Barcelona, Spain.
Giuliana
G
Magri
Department of Immunology-CDB, Hospital Clínic-IDIBAPS, Barcelona, Spain.
Estibaliz
E
Ruiz-Ortiz
Institut Municipal d'Investigació Mèdica, Hospital del Mar, Barcelona, Spain.
Andrea
A
Cerutti
Department of Immunology-CDB, Hospital Clínic-IDIBAPS, Barcelona, Spain.
Jordi
J
Yagüe
Department of Immunology-CDB, Hospital Clínic-IDIBAPS, Barcelona, Spain. Electronic address: jiaroste@clinic.ub.es.
Juan I
JI
Aróstegui
D000293:Adolescent; D001168:Arthritis; D003389:Cranial Nerve Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005091:Exons; D005260:Female; D015870:Gene Expression; D006801:Humans; D009030:Mosaicism; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D010375:Pedigree; D012507:Sarcoidosis; D013585:Synovitis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D014605:Uveitis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D056660:Hereditary Autoinflammatory Diseases
C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein