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Articles by Raz Somech
A Personalised Vaccination Program Based on Immune Reconstitution in Paediatric Cancer Survivors
ALL acute lymphoblastic leukaemia AML acute myeloid leukaemia Hib Haemophilus influenzae type b HSCT haematopoietic stem cell transplantation IDSA Infectious Diseases Society of America IQR interquartile range IR incidence ratio IRR incidence rate ratio ITT intention to treat KREC Kappa-deleting recombination excision circles PBMC peripheral blood mononuclear cell PDG protocol deviated group PPG per protocol group RQ-PCR real-time quantitative polymerase chain reaction SD standard deviation...
A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorder - European Journal of Human Genetics
Abstract Telomere biology disorders (TBDs) are characterized by bone marrow failure (BMF) and dysfunctional telomeres. So far, inherited mutations in 18 genes have been identified in TBDs. Here, we describe a child presenting with early BMF, immunodeficiency, and severely short and defective telomeres, carrying a homozygous splicing mutation (c.409-2 A > G; p.Q136_K138del) in RPA2 – a known replication factor and telomerase accessory factor.
A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2
1 Introduction Spondylocostal dysostosis (SCDO) is a rare genetic disorder with an estimated incidence of 1:40,000 births (Berdon et al. 2011). It is characterized by vertebral and rib malformations, a shortened thorax, kyphoscoliosis, and respiratory complications secondary to pulmonary hypoplasia (Southam et al. 2018). The disease is thought to result from abnormal development of the paraxial presomitic mesoderm (PSM), a key embryonic tissue that gives rise to the vertebral column and ribs.
A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2
1 Introduction Spondylocostal dysostosis (SCDO) is a rare genetic disorder with an estimated incidence of 1:40,000 births (Berdon et al. 2011). It is characterized by vertebral and rib malformations, a shortened thorax, kyphoscoliosis, and respiratory complications secondary to pulmonary hypoplasia (Southam et al. 2018). The disease is thought to result from abnormal development of the paraxial presomitic mesoderm (PSM), a key embryonic tissue that gives rise to the vertebral column and ribs.
Prodromes as Predictors of Hereditary Angioedema Attacks
LETTER Iris Leibovich-Nassi, Iris Leibovich-Nassi Barzilai University Medical Center, Ashkelon, Israel Sackler school of Medicine, Tel Aviv University, Israel Search for more papers by this author Avner Reshef, Corresponding Author Avner Reshef aresh@netvision.net.il orcid.org/0000-0002-3324-7072 Barzilai University Medical Center, Ashkelon, Israel Corresponding author Dr. Avner Reshef Email: aresh@netvision.net.il Search for more papers by this author Raz Somech, Raz Somech Safra Pediatric...
Changes in Routine Pediatric Practice in Light of Coronavirus 2019 (COVID-19)
COVID-19 (Coronavirus 2019), EPA-UNEPSA (European Paediatric Association, Union of National European Paediatric Societies and Associations)The outbreak of severe acute respiratory syndrome coronavirus 2 or coronavirus 2019 (COVID-19) in the city of Wuhan, China, in December 2019 has rapidly emerged into a pandemic affecting national communities throughout the world. As of May 17, 2020, more than 4.5 million people have been infected globally at a pace of 100 000/d, and 307 395 have died.
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Article in Press Department of Pediatric Hematology Oncology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel Department of Pediatrics, Mayanei Hayeshua Medical Center, Bnei Brak, Israel The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel European Pediatric Association, Union of National European Pediatric Societies and Associations, Berlin, Germany European Pediatric Association, Union of National European Pediatric Societies and Associations, Berlin,...
Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B
Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B Raz Somech, Atar Lev, Yu Nee Lee, Amos J. Simon, Ortal Barel, Ginette Schiby, Camila Avivi, Iris Barshack, Michele Rhodes, Jiejing Yin, Minshi Wang, Yibin Yang, Jennifer Rhodes, Nufar Marcus, Ben-Zion Garty, Jerry Stein, Ninette Amariglio, Gideon Rechavi, David L. Wiest and Yong Zhang J Immunol December 15, 2017, 199 (12) 4036-4045; DOI: https://doi.org/10.4049/jimmunol.1700460
Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B
Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B Raz Somech, Atar Lev, Yu Nee Lee, Amos J. Simon, Ortal Barel, Ginette Schiby, Camila Avivi, Iris Barshack, Michele Rhodes, Jiejing Yin, Minshi Wang, Yibin Yang, Jennifer Rhodes, Nufar Marcus, Ben-Zion Garty, Jerry Stein, Ninette Amariglio, Gideon Rechavi, David L. Wiest and Yong Zhang J Immunol November 10, 2017, ji1700460; DOI: https://doi.org/10.4049/jimmunol.1700460
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