Syndromic immunodeficiencies: a pediatrician’s perspective on selected diseases

Abstract

Background: Syndromic immunodeficiencies are a genetically and pathophysiologically heterogeneous group of inborn errors of immunity. These are characterized by multiple extra immune clinical symptoms and a wide range of immunological phenotypes with increased susceptibility to infections, autoimmune phenomena, immune dysregulation, organ-specificpathology, and malignancy.Objective: To increase the pediatricians’ awareness of this multifaceted group of primary immunodeficiencies in children.Methods: A comprehensive review of genetic background and clinical symptomatology of syndromic immunodeficiencies as well as current diagnostic approach and treatment modalities.Results: From the pediatrician’s perspective, an early-life diagnosis of syndromic immunodeficiencies, which is frequently indispensable for successful life-saving immunocorrection, poses a diagnostic challenge. Increased pediatricians’ awareness to recognize signs and symptoms of these diseases in affected children is of paramount importance. Current advances in molecular biotechnology and immunogenetics, resulting in the implementation of newborn screening and new-generation sequencing, provide informative tools for definitive diagnosis and, in many new disease entities, for their definition and genotype–phenotype delineation and correlation.Conclusions: A broad spectrum of clinical phenotypes in children with syndromic primary immunodeficiencies requires pediatrician’s special attention, that is, individualized multidisciplinary approach under the supervision of a clinical immunologist.

The Impact of Processing and Extraction Methods on the Allergenicity of Targeted Protein Quantification as Well as Bioactive Peptides Derived from Egg

“…Consequently, this cascade triggers the pathogenesis of allergy symptoms [ 191 , 192 ]. Allergic reactions associated with IgE are categorized as Type 1 hypersensitivity reactions due to their rapid onset and resulting inflammatory immune response upon exposure to allergens [ 193 , 194 ]. Type 1 hypersensitivity reactions encompass a wide range of allergic conditions, including but not limited to anaphylaxis, asthma, eczema, drug allergies, insect allergies, and food allergies [ 195 , 196 , 197 , 198 ].…”

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach

“…The incidence of 22q11.2 DS has been estimated to range from 1:3000 [2] to 1:4000 live births [1], placing it among frequent syndromic diseases. However, the rate of its clinical suspicion is still challenging, and the process of establishing the definitive diagnosis is an odyssey [3] due to the remarkable heterogeneity of clinical phenotypic expressions and overlapping manifestations with other categories of syndromic disorders [4][5][6]. The disease entities, such as, but not limited to, coloboma-heart defects-choanal atresia-retardation of growth and development-ear anomalies (CHARGE) syndrome [7,8], cardio-facio-cutaneous (CFC) syndrome [9,10], and Takenouchi-Kosaki syndrome (TKS) [11,12], require special pediatrician awareness and multidisciplinary care, as their distinctive phenotypes are associated with immunodeficiencies.…”

Prevalence and Concentration of Mycotoxins in Animal Feed in the Middle East and North Africa (MENA): A Systematic Review and Meta-Analysis

“…However, allergies to mycotoxins in animal feed are relatively rare but can occur in animals with a hypersensitive immune system. These allergies can manifest in various ways, such as respiratory problems, skin irritation, and digestive issues, which can lead to reduced growth rates, weight loss, and in severe cases, mortality [ 41 , 42 , 43 , 44 , 45 , 46 ]. To prevent allergies to mycotoxins in animal feed, it is essential to maintain proper storage conditions, regularly test feed for mycotoxin contamination, and use appropriate detoxification techniques before feeding animals.…”