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List of works by Raz Somech

"The Girl who Grew Horns": Temporal Swelling as an Atypical Presenting Symptom of Epstein-Barr Virus Infection

scientific article published on December 2016

A Congenital Neutrophil Defect Syndrome Associated with Mutations inVPS45 ⬇️

scientific article published on 05 June 2013

A Large Cohort of RAG1/2-Deficient SCID Patients-Clinical, Immunological, and Prognostic Analysis

scientific article published on 14 December 2019

A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

scientific article

A call to include severe combined immunodeficiency in newborn screening program

scientific article published on 21 January 2014

Abstracts from the 10th C1-inhibitor deficiency workshop.

scientific article

Acute encephalopathy preceding Shigella infection

scientific article published on 01 May 2001

Alterations in T and B Cell Receptor Repertoires Patterns in Patients With IL10 Signaling Defects and History of Infantile-Onset IBD

scientific article published on 06 February 2020

Altered T cell receptor beta repertoire patterns in pediatric ulcerative colitis

scientific article published on 27 January 2019

An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency

scientific article published on 24 July 2020

Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A).

scientific article published on 6 February 2018

Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3

scientific article published on 14 September 2020

Author Correction: Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

scientific article published on 20 April 2020

Bacille Calmette-Guerin (BCG) complications in children with severe combined immunodeficiency (SCID)

scientific article published on 17 June 2019

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis

scientific article published on 01 October 2019

Can T-cell and B-cell excision circles predict development of inhibitors in pediatric hemophilia A?

scientific article published in 2022

Celiac disease: extraintestinal manifestations, associated diseases, and complications

scientific article

Cellular and humoral aberrations in a kindred with IL-1 receptor–associated kinase 4 deficiency

scientific article published on 04 June 2007

Changes in Routine Pediatric Practice in Light of COVID-19

scientific article published on 01 June 2020

Characterization of T and B cell repertoire diversity in patients with RAG deficiency

scientific article published on 16 December 2016

Characterization of ζ-associated protein, 70 kd (ZAP70)–deficient human lymphocytes ⬇️

scientific article published on 01 December 2010

Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes.

scientific article published on 20 November 2012

Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients

scientific article published on 4 October 2016

Clinical characteristics of children with 2009 pandemic H1N1 influenza virus infections

scientific article published in August 2011

Co-appearance of OPV and BCG vaccine-derived complications in two infants with severe combined immunodeficiency

scientific article published on 01 June 2018

Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency

scientific article

Combined Gastric and Pancreatic Tissue Inside a Meckel's Diverticulum

scientific article published on 01 July 2018

Combined immunodeficiency in a patient with mosaic monosomy 21.

scientific article published on 24 May 2016

Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene

scientific article published on 11 April 2020

Correction to: Novel Mutations in RASGRP1 Are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma

scientific article published on 01 August 2018

Correlation between 'ACKR1/DARC null' polymorphism and benign neutropenia in Yemenite Jews

scientific article published on 26 March 2015

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Conten

scientific article published on 10 October 2017

Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices

scientific article published on 30 April 2019

Cytomegalovirus retinitis in HIV-negative patients: a practical management approach

scientific article published on 31 December 2014

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects

scientific article published in February 2013

Defining combined immunodeficiency ⬇️

scientific article published on June 2, 2012

Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.

scientific article published on 10 November 2017

Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia

scientific article

Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia.

scientific article published on 4 June 2018

Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy

scientific article published on 02 November 2020

Enhanced expression of the nuclear envelope LAP2 transcriptional repressors in normal and malignant activated lymphocytes

scientific article published on 16 March 2007

Epidemiologic, socioeconomic, and clinical factors associated with severity of respiratory syncytial virus infection in previously healthy infants

scientific article published in September 2006

Eruption of urticaria and angioedema induced by binging and purging in an anorexia nervosa patient

scientific article published in April 2016

Evaluation and management of pediatric patients with anaphylactoid reactions to deferoxamine mesylate

scientific article published in December 2007

Evaluation of immediate allergic reactions to cephalosporins in non-penicillin-allergic patients

scientific article published on 03 June 2009

Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel CARMIL2 mutation

scientific article published on 22 March 2020

Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters—A new syndrome

scientific article published on 01 January 2008

Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease)

scientific article published on 09 July 2019

First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights

scientific article published on 6 November 2017

First generation cephalosporins as therapy for uncomplicated pyelonephritis in children. A retrospective analysis

scientific article

First report of a persistent oropharyngeal infection of type 2 vaccine-derived poliovirus (iVDPV2) in a primary immune deficient (PID) patient after eradication of wild type 2 poliovirus

scientific article published on 03 April 2019

Foscarnet-related Hypercalcemia During CMV Treatment in an Infant With SCID: A Case Report and Review of Literature

scientific article published on 4 November 2016

G23D: Online tool for mapping and visualization of genomic variants on 3D protein structures

scientific article

Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders

scientific article published on 21 September 2020

Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome

scientific article published on 26 February 2018

Genetic predisposition to infectious pathogens: a review of less familiar variants

scientific article

Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome

scientific article published on 16 February 2017

HOW TO APPROACH A PATIENT WITH SUSPECTED IMMUNODEFICIENCY

scientific article published on March 2016

Helper T cell immunity in humans with inherited CD4 deficiency

scientific article published in 2024

Hematologically important mutations: leukocyte adhesion deficiency (first update).

scientific article

Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency

scientific article published on 22 September 2020

High-dose methylprednisolone is effective in the management of acute graft-versus-host disease in severe combined immune deficiency

scientific article published on 30 July 2008

Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1.

scientific article published on 05 October 2015

Histone deacetylase inhibitors--a new tool to treat cancer

scientific article published in August 2004

Hospital versus home treatment of respiratory exacerbations in cystic fibrosis

scientific article published on December 2011

Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

scientific article published on 25 February 2020

Hypoparathyroidism and central diabetes insipidus: in search of the link.

scientific article

Immune and TRG repertoire signature of the thymus in Down syndrome patients

scientific article published on 31 March 2020

Immune reconstitution after HSCT in SCID-a cohort of conditioned and unconditioned patients

scientific article published on 01 June 2019

Immunological effects of nilotinib prophylaxis after allogeneic stem cell transplantation in patients with advanced chronic myeloid leukemia or philadelphia chromosome-positive acute lymphoblastic leukemia

scientific article

Impact of Conditioning on Outcome of Hematopoietic Stem Cell Transplantation for Wiskott-Aldrich Syndrome ⬇️

scientific article published on August 1, 2013

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

scientific article published on 01 March 2021

Insight into normal thymic activity by assessment of peripheral blood samples

scientific article

Interleukin-10 receptor signaling in innate immune cells regulates mucosal immune tolerance and anti-inflammatory macrophage function

scientific article published in May 2014

Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency

scientific article published on 26 September 2018

Kikuchi Fujimoto disease: a rare presentation in a child and an updated review of the literature

scientific article published on 01 January 2002

LAP2zeta binds BAF and suppresses LAP2beta-mediated transcriptional repression.

scientific article

Late diagnosis of Chronic Granulomatous Disease

scientific article published on 07 June 2020

Leptin and C-reactive protein levels correlate during minor infection in children

scientific article

Leukocyte Adhesion Deficiency -A Multicenter National Experience

scientific article published on 04 January 2019

Liver Disease in Pediatric Patients With Ataxia Telangiectasia: A Novel Report

scientific article

Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia

scientific article published on 24 August 2017

MHC II deficient infant identified by newborn screening program for SCID

scientific article published on 01 August 2018

Matrix metalloproteinases 2 and 9 are markers of inflammation but not of the degree of fibrosis in chronic hepatitis C

scientific article published on 21 March 2005

Maturation of the immune system in the fetus and the implications for congenital CMV

scientific article published on 16 March 2019

Microarray-based gene expression profiling of hematologic malignancies: basic concepts and clinical applications

scientific article

Molecular assessment of thymic capacities in patients with Schimke immuno-osseous dysplasia

scientific article published on 30 September 2009

Molecular assessment of thymus capabilities in the evaluation of T-cell immunodeficiency

scientific article

Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis

scientific article published on 04 September 2020

Mutation analysis should be performed to rule out gammac deficiency in children with functional severe combined immune deficiency despite apparently normal immunologic tests

scientific article published on 01 October 2005

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.

scientific article published on 18 July 2016

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

scientific article

Neurologic Presentation in Children with Ataxia-Telangiectasia: Is Small Head Circumference a Hallmark of the Disease? ⬇️

scientific article published on March 22, 2011

Neutrophil Functions in Immunodeficiency Due to DOCK8 Deficiency

scientific article published on 28 January 2019

Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study

scientific article published in August 2013

Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire

scientific article published on 29 April 2019

Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma

scientific article published on 20 July 2018

Novel SMARCAL1 bi-allelic mutations associated with a chromosomal breakage phenotype in a severe SIOD patient

scientific article published on 7 November 2013

Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B- SCID or Omenn syndrome ⬇️

scientific article published on May 7, 2011

Nuclear envelopathies--raising the nuclear veil

scientific article

Patients with Primary Immunodeficiencies Are a Reservoir of Poliovirus and a Risk to Polio Eradication

scientific article published on 13 June 2017

Phase 1/2 study of nilotinib prophylaxis after allogeneic stem cell transplantation in patients with advanced chronic myeloid leukemia or Philadelphia chromosome-positive acute lymphoblastic leukemia.

scientific article

Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency

scientific article published on 8 August 2009

Post-childhood Presentation and Diagnosis of DiGeorge Syndrome

scientific article published on 26 June 2015

Procalcitonin correlates with C-reactive protein as an acute-phase reactant in pediatric patients

scientific article

Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition

scientific article published on 10 January 2019

Pseudotumor cerebri after allogeneic bone marrow transplant associated with cyclosporine a use for graft-versus-host disease prophylaxis

scientific article published in January 2007

Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency ⬇️

scientific article published on May 1, 2013

Quantification of specific T and B cells immunological markers in children with chronic and transient ITP.

scientific article

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation

scientific article published on 17 July 2019

Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells

scientific article published on 19 September 2009

Reply

scientific article published on 31 October 2019

Reversible airway obstruction in children with ataxia telangiectasia

scientific article published on 01 March 2010

Selective clinical and immune response of the oligoclonal autoreactive T cells in Omenn patients after cyclosporin A treatment ⬇️

scientific article published on 01 February 2012

Severe Prolonged Hypothyroidism: Clinical, Anatomical, Physiological, and Metabolic Features

scientific article published on 5 March 2015

Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation

scientific article published on 11 September 2015

Severe eosinophilia in children: a diagnostic dilemma.

scientific article published in May 2013

Sometimes double negative is positive ⬇️

scientific article published on 01 January 2013

Specific self-antigen-driven immune response in pericardial effusion as an isolated GVHD manifestation

scientific article published on 16 November 2009

Survival of the fetus: fetal B and T cell receptor repertoire development

scientific article

T and B cell clonal expansion in Ras-associated lymphoproliferative disease (RALD) as revealed by next-generation sequencing.

scientific article published on 12 May 2017

T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency

scientific article published on 01 May 2018

T- and B-cell defects in a novel purine nucleoside phosphorylase mutation

scientific article published on 10 May 2012

T-cell compartment in synovial fluid of pediatric patients with JIA correlates with disease phenotype

scientific article published on 08 September 2011

T-cell defects in patients with germline mutations account for combined immunodeficiency

scientific article published on 25 September 2018

T-cell receptor excision circles in primary immunodeficiencies and other T-cell immune disorders

scientific article published on December 2011

Testicular failure in a patient with G6PC3 deficiency

scientific article published on 5 May 2014

The Clinician Scientist, a Distinct and Disappearing Entity

scientific article published on 01 September 2019

The Kinetics of Early T and B Cell Immune Recovery after Bone Marrow Transplantation in RAG-2-Deficient SCID Patients ⬇️

scientific article published on January 25, 2012

The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation

scientific article published on 10 January 2017

The effect of gentamicin-induced readthrough on a novel premature termination codon of CD18 leukocyte adhesion deficiency patients

scientific article

The effects of DOCK8 deficiency on human neutrophil functions

scholarly article by Amarilla B. Mandola et al published February 2018 in The Journal of Allergy and Clinical Immunology

The nuclear-envelope protein and transcriptional repressor LAP2beta interacts with HDAC3 at the nuclear periphery, and induces histone H4 deacetylation

scientific article published on September 2005

The role of hematopoietic stem cell transplantation in SP110 associated veno‐occlusive disease with immunodeficiency syndrome ⬇️

scientific article published on March 1, 2013

Thymic and bone marrow output in individuals with 22q11.2 deletion syndrome

scientific article

Thymic function in MHC class II–deficient patients ⬇️

scientific article published on December 8, 2012

Thymic functions and gene expression profile distinct double-negative cells from single positive cells in the autoimmune lymphoproliferative syndrome ⬇️

scientific article published on January 18, 2012

Thymic involution, a co-morbidity factor in amyotrophic lateral sclerosis

scientific article published on October 2010

Thymus Activity, Vitamin D, and Respiratory Infections in Adolescent Swimmers

scientific article

Timely and spatially regulated maturation of B and T cell repertoire during human fetal development

scientific article published on February 2015

Uncommon presentation of some common pediatric diseases.

scientific article published on January 2003

Underperformed and Underreported Testing for Persistent Oropharyngeal Poliovirus Infections in Primary Immune Deficient Patients-Risk for Reemergence of Polioviruses

scientific article published on 15 June 2020

Unusual phenotype in patients with a hypomorphic mutation in the DCLRE1C gene: IgG hypergammaglobulinemia with IgA and IgE deficiency

scientific article published on 21 February 2020

Vitamin D deficiency and insufficiency in Orthodox and non-Orthodox Jewish mothers in Israel.

scientific article published on June 2001

Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community

scientific article published on 03 March 2020

Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

scientific article published on 30 July 2019

[CURRENT KNOWLEDGE ON COVID-19 IN CHILDREN - CAUTIOUS OPTIMISM]

scientific article published on 01 May 2020

[New aspects of celiac disease]

scientific article published on 01 January 2002

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