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  1. Article ; Online: Newborn screening for severe combined immunodeficiency and inborn errors of immunity.

    Lev, Atar / Somech, Raz / Somekh, Ido

    Current opinion in pediatrics

    2023  Volume 35, Issue 6, Page(s) 692–702

    Abstract: 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 ... ...

    Abstract 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. This breakthrough has revolutionized our approach to SCID, enabling not only presymptomatic identification and prompt treatments (including hematopoietic stem cell transplantation), but also enhancing our comprehension of the global epidemiology of SCID.
    Summary: NBS is continuing to evolve with the advent of novel diagnostic technologies and treatments. Following the successful implementation of SCID-NBS programs, a call for the early identification of additional IEIs is the next step, encompassing a broader spectrum of IEIs, facilitating early diagnoses, and preventing morbidity and mortality.
    MeSH term(s) Humans ; Infant, Newborn ; DNA ; Early Diagnosis ; Hematopoietic Stem Cell Transplantation ; Neonatal Screening ; Receptors, Antigen, T-Cell/genetics ; Severe Combined Immunodeficiency/diagnosis ; Severe Combined Immunodeficiency/genetics ; Severe Combined Immunodeficiency/therapy
    Chemical Substances DNA (9007-49-2) ; Receptors, Antigen, T-Cell
    Language English
    Publishing date 2023-09-14
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1049374-8
    ISSN 1531-698X ; 1040-8703
    ISSN (online) 1531-698X
    ISSN 1040-8703
    DOI 10.1097/MOP.0000000000001291
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Coronavirus Disease Spread during Summer Vacation, Israel, 2020

    Ido Somekh / Eric A. F. Simões / Eli Somekh

    Emerging Infectious Diseases, Vol 28, Iss 1, Pp 188-

    2022  Volume 191

    Abstract: The relative increase in coronavirus disease incidence during summer 2020 in Israel was most prominent in young children. This finding contrasts with the lower increase in incidence observed in children than in adults during the school attendance period. ...

    Abstract The relative increase in coronavirus disease incidence during summer 2020 in Israel was most prominent in young children. This finding contrasts with the lower increase in incidence observed in children than in adults during the school attendance period. School closure without lockdown conditions might not be independently effective at reducing spread.
    Keywords COVID-19 ; SARS-CoV-2 ; severe acute respiratory syndrome coronavirus 2 ; viruses ; respiratory infections ; zoonoses ; Medicine ; R ; Infectious and parasitic diseases ; RC109-216
    Language English
    Publishing date 2022-01-01T00:00:00Z
    Publisher Centers for Disease Control and Prevention
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: Coronavirus Disease Spread during Summer Vacation, Israel, 2020.

    Somekh, Ido / Simões, Eric A F / Somekh, Eli

    Emerging infectious diseases

    2021  Volume 28, Issue 1, Page(s) 188–191

    Abstract: The relative increase in coronavirus disease incidence during summer 2020 in Israel was most prominent in young children. This finding contrasts with the lower increase in incidence observed in children than in adults during the school attendance period. ...

    Abstract The relative increase in coronavirus disease incidence during summer 2020 in Israel was most prominent in young children. This finding contrasts with the lower increase in incidence observed in children than in adults during the school attendance period. School closure without lockdown conditions might not be independently effective at reducing spread.
    MeSH term(s) Adult ; COVID-19 ; Child ; Child, Preschool ; Humans ; Israel/epidemiology ; SARS-CoV-2 ; Schools ; Seasons
    Language English
    Publishing date 2021-11-24
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1380686-5
    ISSN 1080-6059 ; 1080-6040
    ISSN (online) 1080-6059
    ISSN 1080-6040
    DOI 10.3201/eid2801.210177
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  4. Article: [CURRENT KNOWLEDGE ON COVID-19 IN CHILDREN - CAUTIOUS OPTIMISM].

    Somekh, Ido / Somech, Raz

    Harefuah

    2020  Volume 159, Issue 5, Page(s) 315–319

    Abstract: Introduction: 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 ... ...

    Abstract Introduction: 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. Severe symptoms in the pediatric population, although uncommon, have been reported mainly in infants younger than 1 year of age. Perinatal transmission is infrequent and associated with a relatively mild illness in the newborn.
    MeSH term(s) Betacoronavirus ; COVID-19 ; Child ; Coronavirus Infections/complications ; Coronavirus Infections/diagnosis ; Coronavirus Infections/epidemiology ; Disease Outbreaks ; Humans ; Infant ; Infant, Newborn ; Infectious Disease Transmission, Vertical ; Pandemics ; Pneumonia, Viral/complications ; Pneumonia, Viral/diagnosis ; Pneumonia, Viral/epidemiology ; SARS-CoV-2
    Keywords covid19
    Language Hebrew
    Publishing date 2020-05-19
    Publishing country Israel
    Document type Journal Article
    ZDB-ID 953872-0
    ISSN 0017-7768
    ISSN 0017-7768
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Book ; Online ; Thesis: Inborn errors of immunity predisposing to primary immunodeficiency and immune dysregulation caused by CD137 and RASGRP1 deficiencies

    Somekh, Ido [Verfasser] / Klein, Christoph [Akademischer Betreuer]

    2022  

    Author's details Ido Somekh ; Betreuer: Christoph Klein
    Keywords Medizin, Gesundheit ; Medicine, Health
    Subject code sg610
    Language English
    Publisher Universitätsbibliothek der Ludwig-Maximilians-Universität
    Publishing place München
    Document type Book ; Online ; Thesis
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  6. Article ; Online: Reply.

    Somekh, Ido / Somekh, Eli / Pettoello-Mantovani, Massimo / Somech, Raz

    The Journal of pediatrics

    2019  Volume 217, Page(s) 220

    Language English
    Publishing date 2019-10-31
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 3102-1
    ISSN 1097-6833 ; 0022-3476
    ISSN (online) 1097-6833
    ISSN 0022-3476
    DOI 10.1016/j.jpeds.2019.10.002
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  7. Article ; Online: Changes in Routine Pediatric Practice in Light of Coronavirus 2019 (COVID-19).

    Somekh, Ido / Somech, Raz / Pettoello-Mantovani, Massimo / Somekh, Eli

    The Journal of pediatrics

    2020  Volume 224, Page(s) 190–193

    MeSH term(s) Ambulatory Care/trends ; Betacoronavirus ; COVID-19 ; Child ; Child Health Services/trends ; Coronavirus Infections/epidemiology ; Global Health ; Hospitals, Pediatric/trends ; Humans ; Pandemics ; Pediatrics/organization & administration ; Pediatrics/standards ; Pediatrics/trends ; Pneumonia, Viral/epidemiology ; SARS-CoV-2 ; Telemedicine
    Keywords covid19
    Language English
    Publishing date 2020-06-01
    Publishing country United States
    Document type Editorial
    ZDB-ID 3102-1
    ISSN 1097-6833 ; 0022-3476
    ISSN (online) 1097-6833
    ISSN 0022-3476
    DOI 10.1016/j.jpeds.2020.05.053
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  8. Article ; Online: Multimodal bioinformatic analyses of the neurodegenerative disease-associated <i>TECPR2</i> gene reveal its diverse roles.

    Shalev, Ido / Somekh, Judith / Eran, Alal

    Journal of medical genetics

    2021  Volume 59, Issue 10, Page(s) 1002–1009

    Abstract: Background: Loss of tectonin β-propeller repeat-containing 2 ( ... TECPR2 ... ) function has been implicated in an array of neurodegenerative disorders, yet its physiological function remains largely unknown. Understanding ... TECPR2 ... function is ... ...

    Abstract Background: Loss of tectonin β-propeller repeat-containing 2 (TECPR2) function has been implicated in an array of neurodegenerative disorders, yet its physiological function remains largely unknown. Understanding TECPR2 function is essential for developing much needed precision therapeutics for TECPR2-related diseases.
    Methods: We leveraged considerable amounts of functional data to obtain a comprehensive perspective of the role of TECPR2 in health and disease. We integrated expression patterns, population variation, phylogenetic profiling, protein-protein interactions and regulatory network data for a minimally biased multimodal functional analysis. Genes and proteins linked to TECPR2 via multiple lines of evidence were subject to functional enrichment analyses to identify molecular mechanisms involving TECPR2.
    Results: TECPR2 was found to be part of a tight neurodevelopmental gene expression programme that includes KIF1A, ATXN1, TOM1L2 and FA2H, all implicated in neurological diseases. Functional enrichment analyses of TECPR2-related genes converged on a role in late autophagy and ribosomal processes. Large-scale population variation data demonstrated that this role is non-redundant.
    Conclusions: TECPR2 might serve as an indicator for the energy balance between protein synthesis and autophagy, and a marker for diseases associated with their imbalance, such as Alzheimer's disease and Huntington's disease. Specifically, we speculate that TECPR2 plays an important role as a proteostasis regulator during synaptogenesis, highlighting its importance in developing neurons. By advancing our understanding of TECPR2 function, this work provides an essential stepping stone towards the development of precision diagnostics and targeted treatment options for TECPR2-related disorders.
    MeSH term(s) Autophagy ; Carrier Proteins/genetics ; Humans ; Kinesins ; Nerve Tissue Proteins/genetics ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/metabolism ; Neurons/metabolism ; Phylogeny
    Chemical Substances Carrier Proteins ; KIF1A protein, human ; Nerve Tissue Proteins ; TECPR2 protein, human ; Kinesins (EC 3.6.4.4)
    Language English
    Publishing date 2021-12-21
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmedgenet-2021-108193
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  9. Article ; Online: Characteristics of SARS-CoV-2 Infections in Israeli Children During the Circulation of Different SARS-CoV-2 Variants.

    Somekh, Ido / Stein, Michal / Karakis, Isabella / Simões, Eric A F / Somekh, Eli

    JAMA network open

    2021  Volume 4, Issue 9, Page(s) e2124343

    MeSH term(s) COVID-19/epidemiology ; COVID-19/virology ; Child ; Child, Preschool ; Cohort Studies ; Contact Tracing/statistics & numerical data ; Female ; Hospitalization/statistics & numerical data ; Humans ; Incidence ; Infant ; Infant, Newborn ; Israel ; Male ; SARS-CoV-2
    Language English
    Publishing date 2021-09-01
    Publishing country United States
    Document type Journal Article ; Observational Study
    ISSN 2574-3805
    ISSN (online) 2574-3805
    DOI 10.1001/jamanetworkopen.2021.24343
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  10. Article ; Online: The Clinician Scientist, a Distinct and Disappearing Entity.

    Somekh, Ido / Somekh, Eli / Pettoello-Mantovani, Massimo / Somech, Raz

    The Journal of pediatrics

    2019  Volume 212, Page(s) 252–253.e2

    MeSH term(s) Biomedical Research ; Career Choice ; Clinical Medicine
    Language English
    Publishing date 2019-08-22
    Publishing country United States
    Document type Editorial
    ZDB-ID 3102-1
    ISSN 1097-6833 ; 0022-3476
    ISSN (online) 1097-6833
    ISSN 0022-3476
    DOI 10.1016/j.jpeds.2019.06.063
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