Priyadarshini Loganathan, Babu Mohan, Abakar Baraka, Mahesh Gajendran, Shreyas Saligram, Mark Aloysius, Juan Echavarria, Hemant Goyal
Trainee Involvement and ERCP Complications: A Systematic Review and Meta-Analysis
Digestive diseases and sciences
nlrp12related autoinflammatory disease nlrp12aid exceptionally rare autosomal dominant disorder caused germline mutations nlrp12 gene patients nlrp12ad identified worldwide therefore scarcity data phenotypic presentation syndrome provide evidence nlrp12aid may clinical manifestations characteristic primary immune deficiencies pid 246 children periodic fever pf unknown origin subjects next generation sequencing ngs analysis 213 patients signs primary immunodeficiency pid manifested recurrent infections 33 kids isolated pf ngs panel composed 302 genes implicated pid andor aid 15 patients 9 girls 6 boys nlrp12aid identified median age first aidrelated fever episode 12 months ranging 2 months 13 years main clinical features nlrp12related aid periodic fever 100 abdominal pain diarrhea 47 arthralgia 20 headache 20 failure thrive 33 nine patients demonstrated increased susceptibility infection two children suffered crohns disease administration short courses nsaid corticosteroids resulted resolution disease flare one severe case canakinumab antiinterleukin1 antibody successfully used significant number patients genetically assigned diagnosis nlpr12aid clinical features close resemble primary immune deficiency phenotypic overlap may result underdiagnosis nlpr12aid among patients pid