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Raz Somech results 14 · Newest (Page 1/1, per page 25)
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A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathyNARA Subscribed
Immunogenetics · 2025 · Vol. 77 · Issue 1 · Springer
Ilia Spivak; Atar Lev; Amos J. Simon; Ortal Barel; Ido Somekh; Raz Somech
Genetic variants in Folli culin inte racting 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. Genetic evaluation utilizing whole-exome sequencing (W...
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B cell repertoire in patients with a novel BTK mutation: expanding the spectrum of atypical X-linked agammaglobulinemiaNARA Subscribed
Immunologic Research · 2022 · Vol. 70 · Issue 2 · Springer
Ori Toker; Arnon Broides; Atar Lev; Amos J. Simon; Orli Megged; Oded Shamriz; Yuval Tal; Raz Somech; Yu Nee Lee; Amit Nahum
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Exploring genetic defects in adults who were clinically diagnosed as severe combined immune deficiency during infancyNARA Subscribed
Immunologic Research · 2021 · Vol. 69 · Issue 2 · Springer
Ido Somekh; Atar Lev; Ortal Barel; Yu Nee Lee; Ayal Hendel; Amos J. Simon; Raz Somech
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A novel zeta-associated protein 70 homozygous mutation causing combined immunodeficiency presenting as neonatal autoimmune hemolytic anemiaNARA Subscribed
Immunologic Research · 2021 · Vol. 69 · Issue 1 · Springer
Eduard Ling; Arnon Broides; Galina Ling; George Shubinsky; Nurit Hadad; Amit Nahum; Amos J. Simon; Atar Lev; Raz Somech
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Bacille Calmette-Guerin (BCG) complications in children with severe combined immunodeficiency (SCID)NARA Subscribed
Infectious Diseases · 2019 · Vol. 51 · Issue 8 · Taylor & Francis
Galia Barkai; Raz Somech; Tali Stauber; Aviv Barziali; Shoshana Greenberger
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Immune reconstitution after HSCT in SCID—a cohort of conditioned and unconditioned patientsNARA Subscribed
Immunologic Research · 2019 · Vol. 67 · Issue 2-3 · Springer
Uri Manor; Atar Lev; Amos J. Simon; Daphna Hutt; Amos Toren; Bella Bielorai; Lior Goldberg; Tali Stauber; Raz Somech
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MHC II deficient infant identified by newborn screening program for SCIDNARA Subscribed
Immunologic Research · 2018 · Vol. 66 · Issue 4 · Springer
Nufar Marcus; Tali Stauber; Atar Lev; Amos J. Simon; Jerry Stein; Arnon Broides; Ido Somekh; Shlomo Almashanu; Raz Somech
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Co-appearance of OPV and BCG vaccine-derived complications in two infants with severe combined immunodeficiencyNARA Subscribed
Immunologic Research · 2018 · Vol. 66 · Issue 3 · Springer
Sophia Heiman; Merav Weil; Lester M. Shulman; Amos J. Simon; Atar Lev; Raz Somech; Tali Stauber
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Survival of the fetus: fetal B and T cell receptor repertoire developmentNARA Subscribed
Seminars in Immunopathology · 2017 · Vol. 39 · Issue 6 · Springer
Erez Rechavi; Raz Somech
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The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutationNARA Subscribed
Immunologic Research · 2017 · Vol. 65 · Issue 3 · Springer
Arnon Broides; Amarilla B Mandola; Jacov Levy; Baruch Yerushalmi; Vered Pinsk; Michal Eldan; George Shubinsky; Nurit Hadad; Rachel Levy; Amit Nahum; Miriam Ben-Harosh; Atar Lev; Amos Simon; Raz Somech
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Combined immunodeficiency in a patient with mosaic monosomy 21NARA Subscribed
Immunologic Research · 2016 · Vol. 64 · Issue 4 · Springer
Erez Rechavi; Sarina Levy-Mendelovich; Tali Stauber; Jana Shamash; Shlomit Reinstein; Helly Vernitsky; Dganit Adam; Amos J. Simon; Atar Lev; Annick Raas-Rothschild; Raz Somech
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Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1NARA Subscribed
Immunologic Research · 2016 · Vol. 64 · Issue 2 · Springer
Sarina Levy-Mendelovich; Erez Rechavi; Omar Abuzaitoun; Helly Vernitsky; Amos J. Simon; Atar Lev; Raz Somech
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Insight into normal thymic activity by assessment of peripheral blood samplesNARA Subscribed
Immunologic Research · 2015 · Vol. 61 · Issue 3 · Springer
Diti Machnes-Maayan; Atar Lev; Uriel Katz; David Mishali; Amir Vardi; Amos J. Simon; Raz Somech
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Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiencyNARA Subscribed
Immunologic Research · 2013 · Vol. 56 · Issue 1 · Springer
Raz Somech; Atar Lev; Galia Grisaru-Soen; Shelly I. Shiran; Amos J. Simon; Eyal Grunebaum
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