Monogenic disorders as mimics of juvenile idiopathic arthritis

[1]  Vana Vukić,et al.  Beyond the guidelines management of juvenile idiopathic arthritis: a case report of a girl with polyarticular disease refractory to multiple treatment options and Leri Weill syndrome , 2021, BMC Pediatrics.

[2]  E. Sochett,et al.  Multicentric carpotarsal osteolysis syndrome (MCTO) with generalized high bone turnover and high serum RANKL: Response to denosumab , 2021, Bone reports.

[3]  J. Jaremko,et al.  Imaging assessment of children presenting with suspected or known juvenile idiopathic arthritis: ESSR-ESPR points to consider , 2020, European Radiology.

[4]  Y. Kawano,et al.  S100A12 and vascular endothelial growth factor can differentiate Blau syndrome and familial Mediterranean fever from systemic juvenile idiopathic arthritis , 2018, Clinical Rheumatology.

[5]  A. Gomes,et al.  A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome , 2018, Journal of Pediatric Genetics.

[6]  D. Foell,et al.  Treating juvenile idiopathic arthritis to target: recommendations of an international task force , 2018, Annals of the rheumatic diseases.

[7]  Mark W. Youngblood,et al.  Genotype–phenotype investigation of 35 patients from 11 unrelated families with camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome , 2018, Molecular genetics & genomic medicine.

[8]  S. Guthery,et al.  H syndrome: 5 new cases from the United States with novel features and responses to therapy , 2017, Pediatric Rheumatology.

[9]  C. Wouters,et al.  Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey , 2016, Journal of Clinical Immunology.

[10]  O. Ohara,et al.  Remarkable improvement of articular pain by biologics in a Multicentric carpotarsal osteolysis patient with a mutation of MAFB gene. , 2015, Pediatric Rheumatology.

[11]  C. Spencer,et al.  Pediatric Rheumatology for the Primary Care Clinicians-Recognizing Patterns of Disease. , 2015, Current problems in pediatric and adolescent health care.

[12]  L. Punzi,et al.  Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease , 2015, RMD Open.

[13]  J. Bertin,et al.  Blau syndrome : cross-sectional data from a multicentre study of clinical , radiological and functional outcomes , 2015 .

[14]  F. Al-Mohanna,et al.  Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis , 2015, Arthritis & rheumatology.

[15]  S. Duan,et al.  Multicentric carpotarsal osteolysis syndrome is caused by only a few domain‐specific mutations in MAFB, a negative regulator of RANKL‐induced osteoclastogenesis , 2014, American journal of medical genetics. Part A.

[16]  J. Demertzis,et al.  Imaging of juvenile idiopathic arthritis: a multimodality approach. , 2013, Radiographics : a review publication of the Radiological Society of North America, Inc.

[17]  Tannin A Schmidt,et al.  Transcription, translation, and function of lubricin, a boundary lubricant, at the ocular surface. , 2013, JAMA ophthalmology.

[18]  Sampath Prahalad,et al.  Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis , 2013, Nature Genetics.

[19]  A. Urquhart,et al.  Total hip arthroplasty in adolescents with severe hip arthropathy and dysplasia associated with camptodactyly-arthropathy-coxa vara-pericarditis syndrome. , 2012, The Journal of arthroplasty.

[20]  L. Al-Gazali,et al.  A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract. , 2012, Birth defects research. Part A, Clinical and molecular teratology.

[21]  M. Brown,et al.  Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. , 2012, American journal of human genetics.

[22]  M. Beresford,et al.  Juvenile Idiopathic Arthritis , 2011, Paediatric drugs.

[23]  Li-Dong Wu,et al.  Lubricin: a novel potential biotherapeutic approaches for the treatment of osteoarthritis , 2011, Molecular Biology Reports.

[24]  Jason P. Gleghorn,et al.  Prevention of cartilage degeneration in a rat model of osteoarthritis by intraarticular treatment with recombinant lubricin. , 2009, Arthritis and rheumatism.

[25]  A. Alazami,et al.  Novel PRG4 mutations underlie CACP in Saudi families , 2006, Human mutation.

[26]  A. Offiah,et al.  Camptodactyly-arthropathy-coxa vara-pericarditis syndrome versus juvenile idiopathic arthropathy. , 2005, AJR. American journal of roentgenology.

[27]  Véronique Lefebvre,et al.  The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth. , 2005, The Journal of clinical investigation.

[28]  B. Hamel,et al.  Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis , 2004, European Journal of Pediatrics.

[29]  Paul Bird,et al.  OMERACT Rheumatoid Arthritis Magnetic Resonance Imaging Studies. Core set of MRI acquisitions, joint pathology definitions, and the OMERACT RA-MRI scoring system. , 2003, The Journal of rheumatology.

[30]  G. Thomas,et al.  CARD15 mutations in Blau syndrome , 2001, Nature Genetics.

[31]  A. Munnich,et al.  Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome. , 2000, American journal of medical genetics.

[32]  S. Schwartz,et al.  CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome , 1999, Nature Genetics.

[33]  M. Warman,et al.  The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1. , 1998, Arthritis and rheumatism.

[34]  E. Blau.  Familial granulomatous arthritis, iritis, and rash. , 1985, The Journal of pediatrics.

[35]  D. Clawson,et al.  HEREDITARY OSTEOLYSIS WITH HYPERTENSION AND NEPHROPATHY. , 1964, JAMA.

[36]  S. Al‐Mayouf,et al.  Utility of Ultrasonography in Children with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome , 2013 .

[37]  Hilde van der Togt,et al.  Publisher's Note , 2003, J. Netw. Comput. Appl..