NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood.

The NLRC4 inflammasome is part of the human immune innate system. Its activation leads to the cleavage of pro-inflammatory cytokines IL-1β and IL-18, promoting inflammation. gain-of-function (GOF) mutations have been associated with early-onset recurrent fever, recurrent macrophagic activation syndrome and enterocolitis.

Polyclonal expansion of TCR Vbeta 21.3 CD4 and CD8 T cells is a hallmark of Multisystem Inflammatory Syndrome in Children.

Multiple Inflammatory Syndrome in Children (MIS-C) is a delayed and severe complication of SARS-CoV-2 infection that strikes previously healthy children. As MIS-C combines clinical features of Kawasaki disease and Toxic Shock Syndrome (TSS), we aimed to compare the immunological profile of pediatric patients with these different conditions. We analyzed blood cytokine expression, and the T cell repertoire and phenotype in 36 MIS-C cases, which were compared to 16 KD, 58 TSS, and 42 COVID-19 cases.

Review: Neonatal dialysis is technically feasible but ethical and global issues need to be addressed.

Aim: Our aim was to look at the technical, ethical and global issues related to neonatal dialysis.

Methods: We performed a PubMed research on manuscripts published from March 2010 to March 2020 and retrospectively reviewed all neonates who received dialysis in our French paediatric and neonatal intensive care units from April 2009 to March 2019.

Results: Dialysis is performed on neonates with pre-existing renal diseases, acute kidney injuries or inborn errors of metabolism.