Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome: A review

Periodic fever,aphthous stomatitis,pharyngitis,and adenitis(PFAPA)syndrome is the most common periodic fever condition in children,with most cases appearing by the age of 5.Although PFAPA is generally a self-limited condition,it can have a major impact on a child’s quality of life,as well as that of their family.Recent research has continued to shed light on the genetic and immunologic factors that play a role in the pathogenesis of PFAPA.There also exists significant heterogeneity in treatment strategies,and progress has been made to develop evidence-based management strategies and establish a standard of care.This review will outline current knowledge regarding the pathogenesis of PFAPA,as well as treatment strategies and our clinical experience.

The clinical phenotype and genotype of NLRP12-autoinflammatory disease: a Chinese case series with literature review

Background The nucleotide-binding oligomerization domain-like receptor protein 12(NLRP12)-autoinflammatory disorder(NLRP12-AD)is a rare autoinflammatory disease characterized by recurrent fever,rash as well as musculoskeletal symptoms,which is rarely reported in Asian populations.Methods Three cases of NLRP12-AD presented to our hospital were studied after parental consents were obtained.Clinical presentations were recorded on a standardized case report form.Mutations of NLRP12 were detected by primary immunodeficiency disease panels and further examined by Sanger sequencing.PubMed literature search for relevant studies of systemic autoinflammatory disorders,especially NLRP12-AD between January,2000 and January,2019 was carried and the clinical data were summarized.Comparisons were made between groups in terms of onset age and of ethnicity.Results All our patients presented with fever,rash and arthritis/arthralgia,and sensorineural as well as sensorineural deafness(1/3),uveitis(1/3),abdominal pain(1/3),and myalgia(1/3).Two novel mutation variations,p.W581X and p.L558R,are reported here.In addition,we also found that two patients inherited the mutated alleles from their healthy parents,and this may be evidence of haploinsutficiency.Conclusions Although the genotypes are similar,the clinical manifestations between Chinese patients and Western patients vary thus highlighting the possible influence of ethnic and environmental factors.On the other hand,some genetic mutations may lead to specific phenotype,as we have found a high prevalence of sensorineural hearing loss among p.R284X patients.