CARD11 dominant negative mutation leads to altered human Natural Killer cell homeostasis.

Dominant negative mutations in CARD11 have been reported in patients with immune dysregulation, severe atopic features, and variable T cell alterations. Data on Natural killer (NK) cells from affected patients are lacking. We report on a 12-year-old boy with severe atopic dermatitis, food induced anaphylaxis and hypogammaglobulinemia harbouring a novel de novo heterozygous variant c.

HMGB1: A pleiotropic activity.

High-mobility group box 1 (HMGB1) is a nuclear protein involved in DNA replication, transcription, recombination, and repair. In the extracellular space, the HMGB1 plays an essential role in the onset and perpetuation of inflammation, belonging to the group of damage-associated molecular pattern (DAMP) molecules, also called alarmins. For this, HMGB1 has been studied in several acute and chronic inflammatory diseases as an early biomarker of inflammation.

Clinical and Laboratory Features of 184 Italian Pediatric Patients Affected with Selective IgA Deficiency (SIgAD): a Longitudinal Single-Center Study.

Purpose: Selective IgA deficiency (SIgAD) is the most common humoral primary immunodeficiency. Long-term follow-up data in large cohort of pediatric patients are scarce.

Methods: We report on a single-center cohort of 184 pediatric patients affected with selective IgA deficiency and describe the characteristics at diagnosis and during follow-up.

Filaggrin mutations and Molluscum contagiosum skin infection in patients with atopic dermatitis.

Background: Although mutations in the filaggrin (FLG) gene have been reported to predispose patients with atopic dermatitis (AD) skin infection susceptibility, to date, the data reported in the literature are still controversial.

Objective: To evaluate the role of FLG polymorphisms expression and risk of developing a concomitant Molluscum contagiosum sustained skin infection in the pediatric population with AD.

Methods: A total of 100 children with AD and 97 healthy children were enrolled.

High mobility group box 1: Biomarker of inhaled corticosteroid treatment response in children with moderate-severe asthma.

Background: High mobility group box 1 (HMGB1) is abnormally expressed in serum and sputum of patients with allergic asthma.

Objective: The aim of this study was to investigate the role of HMGB1 as guidance for treatment management of children with asthma.

Methods: Thirty children with asthma and 44 healthy children were enrolled.

A systematic review of food protein-induced enterocolitis syndrome from the last 40 years.

Objective: To provide a complete, exhaustive summary of current literature relevant to food protein-induced enterocolitis syndrome (FPIES).

Data Sources: Data have been extracted from PubMed and Science Direct databases.

Study Selections: Following the Preferred Reporting Items for Systematic Reviews and Meta-analysis guidelines, a literature search for peer-reviewed journal articles in English through January 1975 with updates through October 2016 was conducted.

Mode of delivery and atopic phenotypes: Old questions new insights? A retrospective study.

Background: To date studies on the relation between mode of delivery and atopic diseases in are controversial.

Objective: The aim of the study was to determine a possible relationship between mode of delivery and risk of atopic phenotypes and, to assess the critical role of some pre-and post-natal parameters as a link between mode of delivery and risk of atopy.

Methods: 1516 children were assessed by skin prick tests, serum total and specific IgE levels.

Mode of delivery and risk for development of atopic diseases in children.

Atopic diseases are a major public health problem worldwide, and several factors are thought to contribute to this rapid increase. The observed association between mode of delivery and risk of atopy in childhood has had a great deal of interest during the past few decades. In fact, even during delivery, exposure to antigens can index immune system in newborn, which induces the release of biologically active molecules, which are polarizing immune responses toward the T-helper 2 atopic profile.

Autoimmune liver disease in Noonan Syndrome.

Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The syndrome is transmitted as an autosomal dominant trait.

Serum interleukin 17, interleukin 23, and interleukin 10 values in children with atopic eczema/dermatitis syndrome (AEDS): association with clinical severity and phenotype.

To date cytokines profile in AEDS is poorly described in children. We evaluated the interleukin (IL)-17, IL-23, and IL-10 levels in atopic eczema/dermatitis syndrome (AEDS) children and healthy controls, in atopic AEDS (aAEDS) and nonatopic (naAEDS) subtypes and their relationship with disease severity. A total of 181 children with aAEDS and 93 healthy children were evaluated.

Expansion of CCR4+ activated T cells is associated with memory B cell reduction in DOCK8-deficient patients.

Hyper-IgE syndrome (HIES) is a genetic disorder characterized by elevated IgE serum levels, mostly due to mutations in STAT3 or DOCK8. Despite clinical heterogeneity between the two forms of the disease, clinical manifestations may not be conclusive for diagnosis and immunological differences are still unclear. Herein, we performed a detailed characterization of the T- and B-cell compartments by flow cytometry in seven HIES patients with homozygous DOCK8 mutations and six patients presenting heterozygous STAT3 mutations.

Idiopathic intracranial hypertension: a unifying neuroendocrine hypothesis through the adrenal-brain axis.

The clinical syndrome idiopathic intracranial hypertension (IIH), also termed pseudotumor cerebri, consists of symptoms of headache, nausea, vomiting and visual field defects in combination with findings of papilledema. IIH is more commonly seen in overweight women where the rise in intracranial pressure is putatively a consequence of an endocrine-based disturbance of electrolytes. Less frequently, it can also occur in men and in the pediatric age group.

A forced expiratory flow at 25-75% value <65% of predicted should be considered abnormal: a real-world, cross-sectional study.

Forced expiratory volume in 1 second (FEV1) is considered an important parameter for asthma diagnosis and follow-up. However, it has been proposed that forced expiratory flow at 25-75% (FEF(25-75)) could be more sensitive than FEV1 to detect slight airways obstruction. In this regard, a cutoff FEF(25-75) value has been recently established in a group of asthmatic children: FEF(25-75) < 65% of predicted has been considered impaired.