Gender equity in academic rheumatology: is there a gender gap at European rheumatology conferences?

OBJECTIVES: To obtain an overview of gender equity at European rheumatology conferences. METHODS: The proportion of women invited as either moderators or speakers to the European Alliance of Associations for Rheumatology (EULAR) annual congresses and national conferences in Europe was calculated from the published congress materials from EULAR annual congresses (2015-2019) and the 2019 national conferences of France, Germany, Italy, Spain and the UK. Data from EULAR congresses were further categorised by type of session. Significance testing was conducted using χ2 tests with the level of statistical significance set at p<0.05. RESULTS: The proportion of combined women moderators and speakers at EULAR varied from 40% to 43% between 2015 and 2019 with no obvious trend over time. There were higher proportions of women in the Health Professionals in Rheumatology and People with Arthritis and Rheumatism sessions (>50% consistently). However, these sessions represent <25% of EULAR congress invitations. Representation of women at the EULAR congress in 2019 (39.6%) was significantly higher than at the national congresses in France (28.6%) and Germany (29.6%) but similar to that observed in Italy (33.7%), Spain (41.7%) and the UK (42%). CONCLUSION: Women account for less than half of invited moderators and speakers at the conferences reviewed. Compared with historical EULAR data in 2003 (16%) and in 2004 (19%), the gender gap at EULAR congresses has narrowed considerably, but there remains a need to monitor and improve women's representation.

Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.

OBJECTIVE: Gain-of-function NLRP3 mutations cause cryopyrin-associated periodic syndrome (CAPS), with gene mosaicism playing a relevant role in the pathogenesis. This study was undertaken to characterize the genetic cause underlying late-onset but otherwise typical CAPS. METHODS: We studied a 64-year-old patient who presented with recurrent episodes of urticaria-like rash, fever, conjunctivitis, and oligoarthritis at age 56 years. DNA was extracted from both unfractionated blood and isolated leukocyte and CD34+ subpopulations. Genetic studies were performed using both the Sanger method of DNA sequencing and next-generation sequencing (NGS) methods. In vitro and ex vivo analyses were performed to determine the consequences that the presence of the variant have in the normal structure or function of the protein of the detected variant. RESULTS: NGS analyses revealed the novel p.Gln636Glu NLRP3 variant in unfractionated blood, with an allele frequency (18.4%) compatible with gene mosaicism. Sanger sequence chromatograms revealed a small peak corresponding to the variant allele. Amplicon-based deep sequencing revealed somatic NLRP3 mosaicism restricted to myeloid cells (31.8% in monocytes, 24.6% in neutrophils, and 11.2% in circulating CD34+ common myeloid progenitor cells) and its complete absence in lymphoid cells. Functional analyses confirmed the gain-of-function behavior of the gene variant and hyperactivity of the NLRP3 inflammasome in the patient. Treatment with anakinra resulted in good control of the disease. CONCLUSION: We identified the novel gain-of-function p.Gln636Glu NLRP3 mutation, which was detected as a somatic mutation restricted to myeloid cells, as the cause of late-onset but otherwise typical CAPS. Our results expand the diversity of CAPS toward milder phenotypes than previously reported, including those starting during adulthood.