Exome sequencing in 90 children with developmental delay: a single-center experience.

Introduction: Developmental delay (DD) in children is often caused by genetic abnormalities, which are challenging to diagnose due to the vast genetic variability.

Methods: This study presents a detailed analysis of whole-exome sequencing (WES) on 90 children with DD at a single clinical center.

Results: We identified pathogenic or likely pathogenic variants in 27.

Attempts to identify the molecular cause of autoinflammatory recurrent fever.

Systemic autoinflammatory diseases caused by dysregulation of the innate immunity are a known cause of recurrent fevers. We present the molecular diagnosis results of 12 children with recurrent fever, analyzing the correlation between molecular findings and clinical symptoms. No pathogenic variants confirming autoinflammatory disease were found.

The HyperPed-COVID international registry: Impact of age of onset, disease presentation and geographical distribution on the final outcome of MIS-C.

Objectives: The aim of the study was to establish an international multicenter registry to collect data on patients with Multisystem Inflammatory Syndrome in Children (MIS-C), in order to highlight a relationship between clinical presentation, age of onset and geographical distribution on the clinical outcome.

Study Design: Multicenter retrospective study involving different international societies for rare immunological disorders.1009 patients diagnosed with MIS-C between March and September 2022, from 48 centers and 22 countries were collected.

Coagulation profile in hospitalized children with COVID-19: pediatric age dependency and its impact on long COVID development.

Introduction: Pulmonary endotheliopathy and microvascular immunothrombosis play a key role in acute COVID-19. Moreover, persistent endotheliopathy and heightened coagulability frequently occur in individuals recovering from COVID-19, suggesting the intriguing possibility of their role in the development of long COVID. The aim of our study was to investigate the coagulation profile in patients with COVID-19 based on age and their role in the development of long COVID.

Variable CD18 expression in a 22-year-old female with leukocyte adhesion deficiency I: Clinical case and literature review.

Key Clinical Message: Partial leukocyte adhesion deficiency type 1 (LAD-1) deficiency is extremely rare condition with milder infectious manifestation and immune system imbalance leads to increased risks of autoinflammatory complications, such as pyoderma gangrenosum, that can be triggered by trauma or pregnancy. In patients with spice-site ITGB2 variants, partial expression can occur due to different β2 integrin isophorms expression.

Abstract: LAD-1, OMIM ID #116920 is a rare, autosomal recessive disorder that results from mutations in the gene that encodes the CD18 β2 integrin subunit.

Overlapping clinical features of systemic juvenile idiopathic arthritis and SARS-CoV-2-related multisystem inflammatory syndrome in children.

Introduction: Differential diagnosis of the systemic juvenile idiopathic arthritis (sJIA) is often complicated, because of the variability in clinical presentation and the absence of specific signs.

Material And Methods: The PubMed/Medline and Scopus databases from the years 2013-2022 were analysed for full articles in English and the following key words were used: "juvenile idiopathic arthritis" and "MIS-C"; "juvenile idiopathic arthritis" and "Kawasaki disease". As an example of the problem the case description of a 3-year-old patient is presented.

Case report: Virus-induced hemophagocytic lymphohistiocytosis in a patient with APECED.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive inborn error of immunity (IEI), which is accompanied by immune dysregulation. Hypoparathyroidism, adrenocortical failure and candidiasis are its typical manifestations. Here we report about recurrent COVID-19 in a 3-year-old boy with APECED, who developed retinopathy with macular atrophy and autoimmune hepatitis after the first episode of SARS-CoV-2 infection.

Serum Vitamin D Levels in Children and Adolescents with Vasovagal Syncope, Syncope Due to Orthostatic Hypotension, and Cardiac Syncope.

Objective: The study aimed to compare vitamin D levels between children and adolescents with vasovagal syncope, syncope due to orthostatic hypotension, cardiac syncope, and healthy individuals and to investigate the correlations of 25(OH)D with main clinical parameters of syncope.

Materials And Methods: This study involved 83 children aged 8-17 years with syncope: 40 with vasovagal syncope, 24 with syncope due to orthostatic hypotension, and 19 with cardiac syncope. There were 24 healthy volunteers in the control group.

Autoimmunity and long COVID in children.

Numerous hypotheses regarding the pathogenetic mechanisms of long COVID have been proposed. Immune dysregulation and autoimmunity are among the leading hypotheses. In this article, we present two clinical cases of long COVID.

Selective immunoglobulin A deficiency in children with diabetes mellitus: Data from a medical center in Ukraine.

The aim of this study was to estimate the prevalence of selective immunoglobulin A deficiency (SIgAD) among children with type 1 diabetes mellitus (DM) in Ternopil region (western Ukraine). Serum IgA levels were measured in 240 patients aged 4-17 years with DM and in 324 children of a control group of the same age. Normal IgA level was observed in 210 (87.

Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates.

Severe combined immunodeficiency (SCID) is a group of inborn errors of immunity (IEI) characterized by severe T- and/or B-lymphopenia. At birth, there are usually no clinical signs of the disease, but in the first year of life, often in the first months the disease manifests with severe infections. Timely diagnosis and treatment play a crucial role in patient survival.

Clinical and autoantibody phenotypes of juvenile dermatomyositis.

Juvenile dermatomyositis (JDM) is a heterogeneous autoimmune inflammatory myositis with symmetrical proximal muscle weakness and a characteristic rash. Juvenile dermatomyositis is characterized by variable presentation and phenotypes. Detection of myositis autoantibodies is useful in improving JDM diagnosis and predicting the prognosis.

Case Report: Association between cyclic neutropenia and SRP54 deficiency.

Autosomal dominant mutations in the signal recognition particle (SRP) 54 gene were recently described in patients with severe congenital neutropenia (SCN). SRP54 deficiency cause a chronic and profound neutropenia with maturation arrest at the promyelocyte stage, occurring in the first months of life. Nearly all reported patients with SRP54 mutations had neutropenia without a cyclic pattern and showed a poor or no response to granulocyte colony-stimulating factor (G-CSF) therapy.

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection fatality rate (IFR) doubles with every 5 y of age from childhood onward. Circulating autoantibodies neutralizing IFN-α, IFN-ω, and/or IFN-β are found in ∼20% of deceased patients across age groups, and in ∼1% of individuals aged <70 y and in >4% of those >70 y old in the general population. With a sample of 1,261 unvaccinated deceased patients and 34,159 individuals of the general population sampled before the pandemic, we estimated both IFR and relative risk of death (RRD) across age groups for individuals carrying autoantibodies neutralizing type I IFNs, relative to noncarriers.

The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies.

SARS-CoV-2 infection fatality rate (IFR) doubles with every five years of age from childhood onward. Circulating autoantibodies neutralizing IFN-α, IFN-ω, and/or IFN-β are found in ~20% of deceased patients across age groups. In the general population, they are found in ~1% of individuals aged 20-70 years and in >4% of those >70 years old.

Impact of the J Project on progress of primary immunodeficiency care in Ukraine.

The J Project is a Central-Eastern European collaborative program in the field of physician education and clinical research aimed at improving the clinical care and diagnosis of primary immunodeficiency disorders (PIDs). Ukraine was one of the first to participate in the project, which allowed us to join the whole European PID community. Since 2004, the country has been holding annual J Project meetings with the involvement of new regions.

AWARENESS OF FOLIC ACID USE AND ITS EFFECTS AMONG MEDICAL STUDENTS IN UKRAINE.

Objective: The aim: To evaluate the awareness of folic acid, its use and effects, general knowledge about neural tube defects among medical students in Ukraine.

Patients And Methods: Materials and methods: This cross-sectional survey was conducted by questioning 114 fourth and fifth years' students of the Faculty of Medicine. The questionnaire contained questions about folic acid, its dietary sources, effects and periconceptional uses; spina bifida and its main symptoms.