Publications by authors named "Ori Toker"
Article Synopsis
- Allergic rhinitis (AR) affects 5% to 50% of the population worldwide, but specific studies on sensitization in Israeli patients have been limited.* -
- A study of 1,308 AR patients in Israel revealed an 86% overall positive skin prick test rate, with indoor allergens affecting 76% of participants; the most common allergens identified were mites, olive tree pollen, grass pollen, and cat dander.* -
- The findings can help allergists customize skin prick test panels and improve immunotherapy by focusing on the most prevalent aeroallergens in different climate zones.*
Article Synopsis
- The study investigates a specific genetic variant in the IP3 receptor that results in a significant disorder affecting multiple systems, characterized by immunodeficiency and disturbed calcium release in cells.
- The variant (c.7570C>T, p.Arg2524Cys) leads to cellular defects, particularly impacting T cells, and is shown to affect calcium regulation and mitochondrial function, evidenced in laboratory models.
- Patients exhibited a range of symptoms beyond immunodeficiency, such as ectodermal dysplasia and short stature, suggesting that this genetic mutation plays a unique and broader role in disease compared to previously documented cases.
Article Synopsis
- * Researchers found 23 specific changes in a gene related to this complex that affect 38 people, leading to problems with brain cell growth and learning in animals.
- * By targeting certain stress response proteins, they discovered ways to help fix some of the immune issues caused by these disorders, leading to new ideas for treatments.
Purpose: Patients with X-linked agammaglobulinemia (XLA) are characterized by humoral impairment and are routinely treated with intravenous immunoglobulin (IVIG). In this study, we aimed to investigate the presence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) antibodies in IVIG preparations harvested globally and evaluate the transfer of SARS-CoV-2 antibodies to the XLA patient.
Methods: A single-center, prospective cohort study was conducted in the period of November 2020 to November 2022.
Article Synopsis
- Patients with inherited CARMIL2 or CD28 deficiencies show defective T cell signaling, but CARMIL2's role is less understood.
- Research indicates that the mutant CARMIL2 alleles affect T cell activation and lead to specific immunological issues including low counts of memory T cells and NK cells, as well as weak antibody responses.
- CARMIL2 deficiency leads to serious health issues by age 10, including frequent infections and inflammation, and milder symptoms are observed in patients with somatic reversions in T cells.
Background And Objectives: To determine the rate of serious-bacterial-infections (SBI) in young ex-premature infants with fever, and to develop a risk-stratification algorithm for these patients.
Methods: A retrospective cohort study including all infants who presented to the pediatric emergency department (ED) of a tertiary-care university-hospital between 2010 and 2020 with fever (≥38°C), were born prematurely (<37-weeks), had post-conception age of <52-weeks, and had available blood, urine, or CSF cultures. The rates of SBI by age-of-birth and age-at-visit were calculated and compared to a cohort of matched full-term controls.
The transcription factor GATA2 plays a key role in the survival and self-renewal of hematopoietic stem and progenitor cells. Autosomal dominant variants in cause a broad spectrum of heterogeneous phenotypes. Here, we present our experience with GATA2 deficiency in a retrospective multicenter analysis of computerized medical records of adult patients (age ≥18 years) treated between 2018 and 2022 at Shaare Zedek Medical Center in Jerusalem and Sheba Tel-Hashomer Medical Center in Ramat Gan, Israel.
View Article and Find Full Text PDFLessons Learned From Five Years of Newborn Screening for Severe Combined Immunodeficiency in Israel.
J Allergy Clin Immunol Pract
October 2022
Article Synopsis
- Newborn screening (NBS) programs for severe combined immunodeficiency (SCID) have significantly improved early diagnosis and outcomes for affected infants, making long-term follow-up essential.
- In Israel, a 5-year analysis of the NBS program revealed a SCID incidence of 1:29,000 births and identified specific genetic defects in affected infants, with no missed diagnoses.
- The study found a 91% survival rate following hematopoietic stem cell transplantation for SCID patients, supporting the case for global implementation of NBS, particularly in regions with high consanguinity.
Article Synopsis
- Diagnosis of primary complement deficiencies often goes unrecognized, leading to underdiagnosis and a lack of treatment in susceptible patients.
- A retrospective study across two medical centers identified five pediatric patients with novel mutations in complement components C6-C8, linked to severe infections like meningitis.
- Increased awareness of the signs of complement deficiencies can enable earlier diagnosis and treatment, particularly in cases of recurrent meningococcal infections or high rates of consanguinity.
X-linked agammaglobulinemia (XLA) is caused by mutations in the Bruton tyrosine kinase) BTK) gene. Affected patients have severely reduced amounts of circulating B cells. Patients with atypical XLA may have residual circulating B cells, and there are few studies exploring these cells' repertoire.
View Article and Find Full Text PDFArticle Synopsis
- STAT1 heterozygous gain-of-function mutations lead to immune dysregulation and chronic mucocutaneous candidiasis, with emerging links to demodicosis.
- A study analyzed five patients (mean age 11.11) from two Jewish families, all presenting with immune issues and demodicosis, revealing a novel STAT1 mutation in four cases.
- Immune profiling indicated heightened STAT activation, reduced T cell responses, and specific antibody deficiency, suggesting demodicosis could signal underlying immune deficiencies; treatment involved topical ivermectin and metronidazole.
Objective: Common variable immune deficiency (CVID) encompasses a variety of diseases characterized by disturbed immunoglobulin (Ig) production and various immune dysregulations. Scarce data are available regarding relationships between CVID and allergic diseases. Here we examined possible associations between allergies and CVID.
View Article and Find Full Text PDFSystemic oxygen restriction (SOR) is prevalent in numerous clinical conditions, including chronic obstructive pulmonary disease (COPD), and is associated with increased susceptibility to viral infections. However, the influence of SOR on T cell immunity remains uncharacterized. Here we show the detrimental effect of hypoxia on mitochondrial-biogenesis in activated mouse CD8 T cells.
View Article and Find Full Text PDFIntroduction: The prevalence of celiac disease (CD) is increased in diabetes mellitus type 1 (DM1) patients. In most cases, CD is diagnosed in asymptomatic patients and hence periodic screening tests are recommended, but the timing, frequency of tests and indication for duodenal biopsy is unclear. The purpose of this study was to investigate the dynamics of CD serology in DM1 and identify risk factors for CD.
View Article and Find Full Text PDFBackground And Aims: There are conflicting data on the association between inflammatory bowel diseases [IBD] and autoimmunity disorders. The aim of this study was to explore this association including the effect of medications.
Methods: We utilized health administrative data collected by three of the four health maintenance organizations [HMOs] in Israel, covering 52% of the country's population.
Article Synopsis
- Severe combined immunodeficiency (SCID) can be detected in newborns through T cell receptor excision circle (TREC) quantification from dried blood spots, and Israel's first year of SCID newborn screening diagnosed 8 cases, indicating a prevalence of 1 in 22,500 births.
- The study found associations between consanguineous marriages, Muslim ethnic origin, and SCID occurrence, along with the emergence of a founder effect for specific SCID types.
- Findings revealed that TREC levels increase with gestational age and birth weight; for extremely premature infants, adjustments to screening thresholds are necessary to reduce false positives, with a notable rise in TREC values observed between 28 and 30 weeks of gestation
Our immune system protects us from various pathogens, autoimmune processes and malignancy. Primary immunodeficiency disorders are rare, however in contrast to the conventional perception, primary immunodeficiency diseases are more common than expected and may occur at any age. An insult to the immune system, primary or secondary, may lead to an increased incidence of infectious diseases, autoimmune diseases and malignancies.
View Article and Find Full Text PDFBackground: Hypernatremic dehydration is a common and potentially life-threatening condition in children. There is currently no consensus as to the optimal strategy for fluid management.
Objectives: To describe the relationship between the type, route and rate of fluids administered and the rate of decline in serum sodium (Na+) concentration.