Update on the Genetics of Autoinflammatory Disorders
AbstractPurpose of the ReviewThis review aims at presenting the most significant data obtained in the field of the genetics of autoinflammatory disorders (AID) over the last past 5 years.Recent FindingsMore than 15 genes have been implicated in AID since 2014, unveiling new pathogenic pathways. Recent data have revealed atypical modes of transmission in several inherited AID, such as somatic mosaicism and digenism. First pieces of evidence showing an involvement of epigenetic modifications in the pathogenesis of AID have also been brought to light. Novel genetic data have been obtained on the molecular bases of genetically complex AID.SummaryThe development of next-generation sequencing in routine clinical practice has led to an explosion in the identification of new AID genes. Advances in the knowledge of AID further blur the limits between monogenic and multifactorial forms of these syndromes, and between autoinflammatory and autoimmune conditions.
Introduction: Atopic dermatitis (AD) is a chronic, inflammatory and pruritic skin disease, with a prevalence of 1-3% of the adult population. Usually begins in early childhood, progresses with a recurrent course before disappearing at puberty, and may persist to adulthood or present de novo during this period. It is frequently associated with elevated levels of serum IgE, individual or family history of type I allergies, allergic rhinitis and asthma. The therapeutic approach in adult AD patients can be frankly complicated beyond topical treatments, as phototherapy and/or systemic therapies often do not guarantee adequate c...
AbstractBackgroundBlood eosinophil count (BEC) and fractional exhaled nitric oxide (FeNO) concentration are established biomarkers in asthma, associated particularly with the risk of exacerbations. We evaluated the relationship of BEC and FeNO as complementary and independent biomarkers of severe asthma exacerbations.MethodsThis observational study included data from the Optimum Patient Care Research Database. Asthma patients (18 –80 years) with valid continuous data for 1 year before FeNO reading, ≥ 1 inhaled corticosteroid prescription, and BEC recorded ≤ 5 years bef...
Peanut allergy is a generally persistent, sometimes life-threatening food allergy that is increasing in prevalence in Western countries.1 There are no FDA-approved therapies for treatment of peanut allergy, and patients must strictly avoid peanut and be prepared to use rescue medication upon symptoms due to unintentional peanut ingestion.1 However, complete avoidance of peanut is difficult at least in part due to its widespread use as a food ingredient in packaged foods and in restaurant or catered meals.
ConclusionsThe benefits of FENO-based management are attenuated among obese mothers and those with excess GWG, indicating the importance of weight management in contributing to improved asthma management in pregnancy.
In Project Viva, a pre-birth cohort study, we identified potential protective prenatal nutrients (Vitamin D, n-3 PUFAs), as well as adverse prenatal pro-oxidant exposures that may alter risk of asthma and allergic disease into adolescence.
Febrile lower respiratory infections trigger uniquely potent/complex immunoinflammatory responses in infants, which enhance both immune maturation and asthma development. Characterization of underlying fever-associated transcriptomic profiles may unmask previously hidden clues regarding mechanisms driving asthma initiation.
This article explores the most relevant issues facing the role of e-Health and its sub-category—mobile health (mHealth)—in promoting treatment adherence in childhood asthma, focusing on current evidence gaps and limitations, and future research perspectives.
ConclusionsPrognosis in patients with CRSwNP was inferior to that in patients with CRSsNP. Asthma was the only factor that increased the chance of recurrence in patients with either CRSsNP or CRSwNP.
This study supports a positive benefit-risk profile for long-term mepolizumab treatment in these patients.