Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.

SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency.

Inherited deficiency of the RNA lariat-debranching enzyme 1 (DBR1) is a rare etiology of brainstem viral encephalitis. The cellular basis of disease and the range of viral predisposition are unclear. We report inherited DBR1 deficiency in a 14-year-old boy who suffered from isolated SARS-CoV-2 brainstem encephalitis.

Adverse Drug Reactions (ADRs) of Montelukast in Children.

Unlabelled: Montelukast is a leukotriene receptor antagonist (LTRA) commonly prescribed for asthma, allergic rhinitis and sleep-related breathing disorders. Recently, some studies have reported several adverse events, such as neuropsychiatric disorders and sleep disturbances, among children.

Objective: To obtain more insight into the safety profile of montelukast for children with asthma, allergic rhinitis and sleep-related breathing disorders.

Evaluating the knowledge on microbiome and dysbiosis in allergic diseases among medical sciences students in Saudi Arabia.

Background: Microbiome science deals with the development of diseases that are derived from the interaction between the host immune system and microbes. Microbiome disturbance or dysbiosis has been increasingly recognized as an important contributor to the pathogenesis of allergic diseases. Thus, this field is pivotal in the management of allergic disorders.

Perception of Saudi Undergraduate Students Towards Professionalism in Medicine.

Objectives: Professionalism has garnered immense attention in medical education due to increased societal accountability and focus on excellence in healthcare. However, less attention has been given to identifying attitudes about professionalism in medical students who are the future advocates of the healthcare system. This study aimed to assess perceptions of Saudi undergraduate medical students towards professionalism.

Value of the Direct Antiglobulin Test in Predicting the Need for Phototherapy in Newborns.

Purpose: Guidelines for managing neonatal hemolytic disease of the newborn (HDN) recommend a selective approach in the use of direct antiglobulin test (DAT). In Saudi Arabia, many hospitals still perform routine DAT for all newborns. This study assessed the need for phototherapy in relation to DAT results in full-term healthy newborns.

Clinical spectrum and outcome of immunoglobulin A vasculitis in children: A 10-year clinical study.

Background: Immunoglobulin A (IgA) vasculitis is the most common vasculitides of childhood. The aim of this study was to characterise the disease and identify clinical and laboratory factors associated with renal involvement.

Methods: Medical records of children aged ≤18 years with the diagnosis of IgA vasculitis according to the EULAR/PRES criteria were retrospectively reviewed for demographic data, clinical manifestations and laboratory tests.

Childhood Asthma Awareness in Saudi Arabia: Five-Year Follow-Up Study.

Background: Bronchial asthma is a chronic inflammatory airway disease that is characterized by reversible airway obstruction due to bronchial hyperresponsiveness. It is one of the most common chronic diseases. In Saudi Arabia, asthma affects 2 million people with asthma frequency in children markedly higher than adults with regional variations ranging from 9% to 33.

Dynamic Interplay Between Microbiota and Mucosal Immunity in Early Shaping of Asthma and its Implication for the COVID-19 Pandemic.

The crosstalk between host immunity and the external environment in the mucous membranes of the gastrointestinal and respiratory tracts in bronchial asthma has recently been scrutinized. There is compelling evidence that the microbiota at these sites may play an important role in the pathogenesis of this chronic airway disease. The appearance of bacteria early in life in the gut before dissemination to the airways plays a pivotal role in shaping mucosal immunity.

A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review.

Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder (PID) affecting NADPH oxidase activity. The rarest form of the disease is considered to be caused by NCF2 gene bi-allelic variant. Here, we report the clinical and molecular characterization of a patient presenting with early-onset severe disease due to bi-allelic NCF2 variant.

Sensitization to Common Aeroallergens in Asthmatic Children in the Eastern Region of Saudi Arabia.

Background: Allergic disorders, particularly bronchial asthma, are one of the most common chronic childhood diseases. Bronchial asthma is more prevalent among children of the Eastern Province of Saudi Arabia compared with the other provinces. Environmental factors play major roles in the disease pathogenesis in genetically predisposed hosts.

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.

Chronic mucocutaneous candidiasis (CMC) is defined as recurrent or persistent infection of the skin, nails, and/or mucosae with commensal Candida species. The first genetic etiology of isolated CMC-autosomal recessive (AR) IL-17 receptor A (IL-17RA) deficiency-was reported in 2011, in a single patient. We report here 21 patients with complete AR IL-17RA deficiency, including this first patient.

CNS vasculitis and stroke as a complication of DOCK8 deficiency: a case report.

Background: Primary immunodeficiency disorders associated with autoimmunity are poorly understood. Central nervous system (CNS) vasculitis can complicate the courses of such entities, but it is underappreciated. Deletion of the dedicator of cytokinesis 8 (DOCK8) gene is considered to be the autosomal recessive form of hyperimmunoglobulin E syndrome which is a rare type of primary immunodeficiency disease characterized by elevated levels of IgE antibody, eczema, and recurrent staphylococcal infections.

Validation of the postgraduate hospital educational environment measure at a Saudi university medical school.

Objective: The English version of the postgraduate hospital educational environment measure (PHEEM) was evaluated to determine its psychometric properties, validity, and internal consistency. The instrument was used to measure the clinical learning environment in the hospital setting of a Saudi university medical school.

Methods: This cross-sectional study was performed in a Saudi medical school between June and August 2012.