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List of works by Fabien Touzot

A modified γ-retrovirus vector for X-linked severe combined immunodeficiency

scientific article

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation

scientific article published on 25 July 2015

CD45RA depletion in HLA-mismatched allogeneic hematopoietic stem cell transplantation for primary combined immunodeficiency: A preliminary study

scientific article published on 3 October 2014

Circulating endothelial cells as markers of endothelial dysfunction during hematopoietic stem cell transplantation for pediatric primary immunodeficiency

scholarly article by Fabien Touzot et al published November 2014 in The Journal of Allergy and Clinical Immunology

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).

scientific article published on 30 November 2010

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study ⬇️

scientific article published on 16 July 2016

Evaluation of antithymocyte globulin pharmacokinetics and pharmacodynamics in children

scholarly article by Naïm Bouazza et al published January 2016 in The Journal of Allergy and Clinical Immunology

Evidence of innate lymphoid cell redundancy in humans

scientific article published on 12 September 2016

Faster T-cell development following gene therapy compared with haploidentical HSCT in the treatment of SCID-X1.

scientific article

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome

scientific journal article

Gene therapy for inherited immunodeficiency

scientific article

Gene therapy for primary immunodeficiencies.

scientific article

Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey

scientific article

Hepatitis E virus in hematopoietic stem cell donors: Towards a systematic HEV screening of donors?

scientific article

Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita.

scientific article published on 10 November 2011

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability

scientific article

Hyperinflammation in patients with chronic granulomatous disease leads to impairment of hematopoietic stem cell functions

scientific article

Images in neonatal medicine. Abdominal cellulitis due to Escherichia coli in a two month old premature newborn.

scientific article

In hematopoietic cells with a germline mutation of CBL, loss of heterozygosity is not a signature of juvenile myelo-monocytic leukemia.

scientific article published on 4 July 2013

Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection

scientific article published on 23 December 2016

Inherited Immunodeficiency: A New Association With Early-Onset Childhood Panniculitis

scientific article published in April 2018

Innovative Curative Treatment of Beta Thalassemia: Cost-Efficacy Analysis of Gene Therapy Versus Allogenic Hematopoietic Stem-Cell Transplantation

scientific article published on 03 May 2019

Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients

scientific article

Mammalian target of rapamycin inhibition counterbalances the inflammatory status of immune cells in patients with chronic granulomatous disease

scientific article

Massive expansion of maternal T cells in response to EBV infection in a patient with SCID-Xl

article

Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome

scientific article published on April 2015

Prevalence and Clinical Impact of Norovirus Fecal Shedding in Children with Inherited Immune Deficiencies

scientific article published on 07 August 2012

Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency.

scientific article

Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations

scientific article

Recurrent pyloric stenosis in a 7-year-old child with chronic granulomatous disease

scientific article

Reply

Safety of CD34 Hematopoietic Stem Cells and CD4 T Lymphocytes Transduced with LVsh5/C46 in HIV-1 Infected Patients with High-Risk Lymphoma

article

Safety of hematopoietic stem cell transplantation from hepatitis B core antibodies-positive donors with low/undetectable viremia in HBV-naïve children.

scientific article published on 28 September 2013

Specific T cells for the treatment of cytomegalovirus and/or adenovirus in the context of hematopoietic stem cell transplantation

scientific article

Stem cell transplantation for primary immunodeficiencies: the European experience

scientific article

Successful in utero stem cell transplantation in X-linked severe combined immunodeficiency

scientific article published on 01 February 2019

Temporal and spatial compartmentalization of drug-resistant cytomegalovirus (CMV) in a child with CMV meningoencephalitis: implications for sampling in molecular diagnosis

scientific article published on 09 October 2013

Understanding therapeutic emergencies in acute hemolysis.

scientific article

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder

scientific article

Very Early-Onset Inflammatory Manifestations of X-Linked Chronic Granulomatous Disease

scientific article published on 26 September 2017

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