Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

Abstract

3600 mg/dl; IgM 126 mg/dl), elevated serum amyloid A levels (160 mg/ml) and decreased CD4/CD8 T cell ratio. Autoantibody (ANA, ENA, anti-DNA) and HLA B 27 were negative. WES analysis showed the de novo heterozygous missense variation c.C1132A (p.H378N) in PIM-1 gene (NM_001243186). This variation was never described in on-line database (HGMD, Exac, 1000 g, ESP6500). The second patient was an adult female with a clinical history of persistent microcytic anemia, splenomegaly, striking hypergammaglobulinemia (IgG > 3000 mg/dL) and recurrent protracted fever episodes during childhood. At 13 years, she underwent splenectomy because of hypersplenism. At 28 years she presented a cerebral oligoastrocytoma that was removed by surgery. No mutations were found in genes associated with autoimmune lymphoproliferative syndromes and histiocytosis (FAS, FASLG, XIAP, TNFRSF13B, UNC13D, CASP9, CASP10). The direct sequencing of PIM-1 revealed again the above described de novo mutation in PIM-1. Conclusion:We propose that these patients represent two cases of a novel syndrome associated with a specific mutation in PIM-1 gene (PLAS). First, the two cases share significant overlap of autoinflammatory and proliferative features involving the endothelial and the immune systems. Second, the gene mutation identified was never described in healthy people or in patients with other disorders and is predicted to be pathogenic based on all the bionformatic tools. Finally, previous functional studies showed that PIM-1 pathway is relevant to immune activation and indeed somatic mutations in this gene have been reported in association with lymphomas, and it is thought to contribute to survival of cancerous cells. Disclosure of Interest None Declared O6Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset systemic autoinflammatory disease

Clinical, Immunological and Inflammatory Characteristics among Mexican Children with Different Subtypes of Juvenile Idiopathic Arthritis: Exploring the Correlation between Anti-Cyclic Citrullinated Peptide (anti-CCP) and Rheumatoid Factor (RF)

“…The authors confirm that only an abstract (less than 400 words) was presented at the 23rd Paediatric Rheumatology European Society Congress, Genoa, Italy, September 2016, as a poster presentation [38].…”