Publications by authors named "Ido Somekh"
Background: Hematopoietic stem cell transplantation (HSCT) is a curative treatment for infants with severe combined immunodeficiency (SCID). Different factors determine HSCT success and overall survival (OS). Specifically, prompt diagnosis of SCID, preferably through newborn screening (NBS), is critical.
View Article and Find Full Text PDFGenetic variants in Folliculin interacting protein 1 (FNIP1) were recently discovered as monogenic causes for immunodeficiency and cardiomyopathy, with only a few patients diagnosed thus far. In this study, we describe a patient harboring a novel genetic variant in FNIP1 causing immunodeficiency with cardiac involvement. Clinical and immunological workups were performed.
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- Inborn errors of immunity (IEI) are diseases that affect how the immune system works, causing problems like getting sick easily or having allergies.
- A 19-year-old girl with severe combined immunodeficiency (SCID) and a family history of similar issues had two genetic mutations that made her immune system not work right.
- After getting a special treatment called HSCT, she developed serious autoimmune problems like lupus, and tests showed complicated genetic issues can exist in people from close families.
Newborn screening for severe combined immunodeficiency and inborn errors of immunity.
Curr Opin Pediatr
December 2023
Purpose Of Review: Severe combined immune deficiency (SCID) is the most devastating genetic disease of the immune system with an unfavorable outcome unless diagnosed early in life. Newborn screening (NBS) programs play a crucial role in facilitating early diagnoses and timely interventions for affected infants.
Recent Findings: SCID marked the pioneering inborn error of immunity (IEI) to undergo NBS, a milestone achieved 15 years ago through the enumeration of T-cell receptor excision circles (TRECs) extracted from Guthrie cards.
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: Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder. ICF1 is caused by bi-allelic mutations in the gene encoding deoxyribonucleic acid methyltransferase-3B (DNMT3B). Herein, we report a novel homozygous DNMT3B mutation in a patient with ICF1.
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- The study assessed the impact of the COVID-19 vaccination campaign using a model to evaluate the reduction in SARS-CoV-2 cases, hospitalizations, and deaths in Israel during January-February 2021.
- Using data from the Israeli Ministry of Health, the model predicted a reduction of approximately 648,585 COVID-19 cases, 16,101 hospitalizations, and 5,123 deaths overall during the first two months of the campaign.
- A significant indirect effect was noted for children aged 0-19, with an estimated 163,436 cases averted, highlighting the campaign’s contribution to preventing a potential health care crisis.
Article Synopsis
- The study aimed to compare the medical impact of measles, influenza, and COVID-19 on children in Bnei Brak, Israel, from 2018 to 2021.
- It recorded hospitalisation numbers and rates for each infection, finding that 247 children were admitted for influenza, 65 for COVID-19, and only 32 for measles.
- Results showed that measles had the highest complication rates, with hospitalisation risks significantly greater for measles and influenza compared to COVID-19.
Article Synopsis
- The rise in coronavirus cases during summer 2020 in Israel was notably higher among young children.
- In contrast, during the school year, children showed a lower increase in cases compared to adults.
- The study suggests that closing schools alone, without additional lockdown measures, may not effectively reduce virus transmission.
Article Synopsis
- The study analyzes how the characteristics of COVID-19 infections in children differ between two time periods in Israel: August-October 2020 and December 2020-February 2021.
- It focuses specifically on the spread of different variants of the SARS-CoV-2 virus during these timeframes.
- The findings aim to provide insights into how these variants may have affected infection rates and characteristics among the pediatric population.
Article Synopsis
- The study compared the spread of SARS-CoV-2 within families during two different time periods: January-February 2021 (when the B.1.1.7 variant was common) and April-May 2020 (when other variants were circulating).
- Results showed significantly higher rates of transmission among family members across all age groups, especially in young children, during the January-February 2021 period.
- Additionally, there was a noted decrease in sensory impairment symptoms (like loss of taste or smell) among those infected during the later period.
Article Synopsis
- This study looks at how often COVID-19 cases occur in young people aged 0 to 19 in Israel.
- It compares the rates before schools reopened and after they opened back up.
- The goal is to understand the impact of reopening schools on COVID-19 spread among youths.
Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients.
Endocr Metab Immune Disord Drug Targets
March 2022
Background: Dedicator of Cytokinesis 8 (DOCK8) deficiency, the most frequent cause of autosomal recessive hyper immunoglobulin (Ig)E syndrome, is a rare combined immunodeficiency.
Objective: In this study, we report seven patients, with consanguineous parents, with five novel variants within the DOCK8 gene.
Methods: For genetic analysis, we performed Whole Exome Sequencing (WES) or targeted sequencing by means of Next-generation sequencing (NGS) for some of the patients.
Genetic diagnostic tools including whole-exome sequencing (WES) have advanced our understanding in human diseases and become common practice in diagnosing patients with suspected primary immune deficiencies. Establishing a genetic diagnosis is of paramount importance for tailoring adequate therapeutic regimens, including identifying the need for hematopoietic stem cell transplantation (HSCT) and genetic-based therapies. Here, we genetically studied two adult patients who were clinically diagnosed during infancy with severe combined immune deficiency (SCID).
View Article and Find Full Text PDFBackground: Benefits of school reopening must be weighed against the morbidity and mortality risks and the impact of enhancing spread of coronavirus disease 2019 (COVID-19). We investigated the effects of school reopening and easing of social-distancing restrictions on dynamics of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections in Israel between March and July 2020.
Methods: We examined the nationwide age-wise weekly incidence, prevalence, SARS-CoV-2 polymerase chain reaction tests, their positivity, COVID-19 hospitalizations, and associated mortality.
Article Synopsis
- The T cell receptor (TCR) signaling pathway relies on various proteins for a functional immune response, and any disruption can lead to severe immunodeficiency.
- A case study presents an infant with severe immunodeficiency due to novel biallelic mutations in the SLP76 gene, which is vital for TCR signaling and hematopoietic functions.
- The research links SLP76 deficiency to life-threatening infections and immunodeficiencies, while also modeling the patient’s immune issues in a lab setting to better understand the disease and its effects.
Article Synopsis
- * It can also affect the tracheobronchial tree, leading to potentially serious respiratory issues if not promptly addressed.
- * There is currently no approved specific treatment for this deficiency, but a case study details successful management using fresh frozen plasma and tissue plasminogen activator after identifying a novel mutation.
Age-Dependent Sensory Impairment in COVID-19 Infection and its Correlation with ACE2 Expression.
Pediatr Infect Dis J
September 2020
Article Synopsis
- Children who tested positive for COVID-19 experienced less impairment in smell and taste compared to adults.
- The level of sensory impairment was linked to recent data on angiotensin-converting enzyme 2 expression in different age groups.
- This study is the first to analyze and compare sensory impairment between children and adults with COVID-19.
The recent outbreak of COVID-19 which began in Wuhan, China in December 2019 and rapidly spread worldwide evolving into a pandemic, poses a global health emergency. As of mid-April over 2 million people have been infected with over 145 thousand casualties. The disease is more severe in the older population, whereas in children lower infection rates and milder symptoms are more common.
View Article and Find Full Text PDFAn amendment to this paper has been published and can be accessed via a link at the top of the paper.
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- Primary immunodeficiencies (PIDs) are genetic disorders affecting the immune system, which can be identified using whole exome sequencing (WES).
- In a study involving 106 PID-suspected patients from a consanguineous community, WES provided a likely genetic diagnosis for 70% of the participants.
- The results also led to changes in clinical management for 39% of patients, highlighting WES as a crucial diagnostic tool for PIDs in such communities.
Article Synopsis
- * Researchers found mutations in the FCHO1 gene in ten unrelated patients, leading to problems with T and B cell lymphopenia, as the mutations either misplace the protein or disrupt its interactions.
- * The study shows that FCHO1 is crucial for T cell receptor internalization and that deficient T cells can be helped by introducing normal FCHO1, revealing its importance in T-cell development and function.