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- Title
Seropositive polyarthritis and diffuse lymphadenopathy associated with PRKCD mutation.
- Authors
Papa, Riccardo; Schena, Francesca; Corcione, Anna; Bocca, Paola; Drago, Enrico; Malattia, Clara; Grossi, Alice; Ceccherini, Isabella; Gattorno, Marco
- Abstract
The article describes the case of an 18-year-old girl carrying a heterozygous PRKCD gene mutation associated with lymphocytes defects developing a rheumatoid factor-positive polyatricular juvenile idiopathic arthritis (JIA) during pubertal age. Topics include medical history of the patient, possible role of the PRKCD mutation in the patient phenotype, and immunological features that recall the lymphocytes defect described in symptomatic carriers of the homozygous PRKCD mutation.
- Subjects
BONE marrow examination; JUVENILE idiopathic arthritis; PROTEIN kinases; RARE diseases; CELL proliferation; APOPTOSIS; METHOTREXATE; GENES; GENETIC mutation; CELL differentiation; LYMPHATIC diseases
- Publication
Rheumatology, 2024, Vol 63, Issue 6, pe179
- ISSN
1462-0324
- Publication type
Case Study
- DOI
10.1093/rheumatology/kead639