Search filters

List of works by Despina Moshous

A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans

scientific article

A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency

scientific article published on 09 January 2020

A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency

scientific article

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

scientific article

A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p

article

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.

scientific article

An update on pediatric invasive aspergillosis

scientific article published on 27 May 2015

Artemis sheds new light on V(D)J recombination

scientific article published in August 2004

Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

scientific article

Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

scientific article published on 01 January 2019

BRAF Mutation Correlates With High-Risk Langerhans Cell Histiocytosis and Increased Resistance to First-Line Therapy

scientific article published on 05 July 2016

CCR5 antagonists: a therapeutic option in HIV-1 perinatally infected children experiencing virologic failure?

scientific article published on August 2012

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

scientific article published on 3 October 2014

CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis

scientific article published on 14 March 2012

Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome

scientific article

Circulating cell-free BRAFV600E as a biomarker in children with Langerhans cell histiocytosis.

scientific article published on 25 April 2017

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 Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study

article

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study ⬇️

scientific article published on 21 April 2016

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

Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome

scientific article published on 21 May 2012

Combined liver and hematopoietic stem cell transplantation in patients with X-linked hyper-IgM syndrome

scientific article published on 22 January 2019

Coronin 1 regulates cognition and behavior through modulation of cAMP/protein kinase A signaling

scientific article

Cutaneous and Visceral Chronic Granulomatous Disease Triggered by a Rubella Virus Vaccine Strain in Children With Primary Immunodeficiencies.

scientific article published on 6 October 2016

Daratumumab in life-threatening autoimmune hemolytic anemia following hematopoietic stem cell transplantation

scientific article published on 01 October 2018

Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency

scientific article published on 3 August 2012

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry. ⬇️

scientific article published on 16 March 2018

Disruption of Coronin 1 Signaling in T Cells Promotes Allograft Tolerance while Maintaining Anti-Pathogen Immunity

scientific article published on 02 January 2019

Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children

scientific article published on 20 August 2016

Erratum: Corrigendum: Evidence of innate lymphoid cell redundancy in humans

article

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

Extended clinical and genetic spectrum associated with biallelic mutations

article

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

scientific article

Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia

article

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

scientific article

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

scientific article published on 29 October 2018

Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF alpha monoclonal antibodies

Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-α mAbs

scientific article published on 28 June 2011

Hematopoietic stem cell transplantation for CD40 ligand deficiency: results from an EBMT/ESID-IEWP-SCETIDE-PIDTC Study

scientific article published on 17 January 2019

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.

scientific article published on 5 July 2017

Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients

scientific article published on 29 April 2009

Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience

article published in 2005

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

scientific article

Human CD14dim monocytes patrol and sense nucleic acids and viruses via TLR7 and TLR8 receptors

scientific article published on 9 September 2010

Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction

scientific article published on 05 March 2019

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

scientific article

Incidence and risk factors for clinical neurodegenerative Langerhans cell histiocytosis: a longitudinal cohort study

scientific article published on 12 November 2018

Inflammasome activation in NADPH oxidase defective mononuclear phagocytes from patients with chronic granulomatous disease

scientific article published on 21 May 2010

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

Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1

scientific article

Intestinal dysbiosis in Inflammatory Bowel Disease associated with primary immunodeficiency

scientific article published on 10 October 2018

Is neutralization of IFN-γ sufficient to control inflammation in HLH?

scientific article published on 06 January 2021

Langerhans cell histiocytosis: therapeutic strategy and outcome in a 30-year nationwide cohort of 1478 patients under 18 years of age.

scientific article published on 7 June 2016

Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency

scientific article published on 23 January 2009

Lopinavir/ritonavir-based antiretroviral therapy in human immunodeficiency virus type 1-infected naive children: rare protease inhibitor resistance mutations but high lamivudine/emtricitabine resistance at the time of virologic failure

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

Metallo-beta-lactamase fold within nucleic acids processing enzymes: the beta-CASP family

scientific article

Model of population pharmacokinetics of cidofovir in immunocompromised children with cytomegalovirus and adenovirus infection

scientific article published on 01 September 2018

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype ⬇️

scientific article published on June 12, 2011

Multicentric Castleman disease in an HHV8-infected child born to consanguineous parents with systematic review

scientific article published on 12 December 2011

Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1).

scientific article published on 20 April 2017

Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation

scientific article published on 01 May 2019

Ostéopétrose maligne infantile : à propos d’un cas chez un nourrisson de 5 mois

scientific article published on 02 February 2016

Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.

scientific article published on 6 April 2017

Outcomes for Nitazoxanide Treatment in a Case Series of Patients with Primary Immunodeficiencies and Rubella Virus-Associated Granuloma

scientific article published on 24 January 2019

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.

scientific article published on 2 April 2015

PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects

scientific article published on 12 June 2018

Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis

scientific article

Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis

article by Despina Moshous et al published 1 February 2003 in Journal of Clinical Investigation

Pharmacokinetic Behavior and Appraisal of Intravenous Busulfan Dosing in Infants and Older Children

Phosphorylation of Artemis following irradiation-induced DNA damage

scientific article

Physical health conditions and quality of life in adults with primary immunodeficiency diagnosed during childhood: A French Reference Center for PIDs (CEREDIH) study

scientific article

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

scientific article

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

scientific article

Primary necrotizing lymphocytic central nervous system vasculitis due to perforin deficiency in a four-year-old girl

scientific article

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

article

RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations

scientific article published in February 2012

Recurrent Respiratory Infections Revealing CD8α Deficiency

scientific article

Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study

scientific article published on 23 October 2013

Resilience and Life Expectations of Perinatally HIV-1 Infected Adolescents in France

scientific article

Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome

scientific article

Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders

scientific article published on 03 January 2019

SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.

scientific article published on 21 October 2013

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

Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension Studies

scientific article published on 28 October 2020

Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.

scientific article published on January 2006

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

Strains Responsible for Invasive Meningococcal Disease in Patients With Terminal Complement Pathway Deficiencies

scientific article published on 25 March 2017

Successful haematopoietic stem cell transplantation in a case of pulmonary alveolar proteinosis due to GM-CSF receptor deficiency

scientific article published on 20 December 2017

Systematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of cost-effectiveness based on French real field data

scientific article

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

scientific article published on 25 September 2018

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

The V(D)J recombination/DNA repair factor artemis belongs to the metallo-beta-lactamase family and constitutes a critical developmental checkpoint of the lymphoid system

scientific article

The expanding spectrum of human coronin 1A deficiency

scientific article published on December 2014

The many faces of hemophagocytic lymphohistiocytosis — a challenge in diagnosis and therapy

scientific article published in 2014

The metallo-beta-lactamase/beta-CASP domain of Artemis constitutes the catalytic core for V(D)J recombination

scientific article

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis

scientific article published on 28 May 2015

Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency.

scientific article

Thymus transplantation for complete DiGeorge syndrome: European experience.

scientific article

Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood?

scientific article

Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis

scientific article published on 13 August 2018

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

scientific article published on 5 January 2017

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

scientific article published on 21 March 2013

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

scientific article

Paulina is supported by:

About Paulina

Help