Despina MOSHOUS | Institut Imagine

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Despina MOSHOUS

Dynamique du Génome et Système Immunitaire

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despina.moshous@institutimagine.org

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Publications scientifiques

Publications

2026

Paediatric-onset autoimmune cytopenia: How can we reduce the long-term mortal..., Br J Haematol
2026

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diver..., Elsevier BV
2025

Novel de novo dominant PSMB10 varian..., Rockefeller University Press
2025

A heterozygous USB1 variant linked to immunodeficiency., J Hum Immun
2025

Proceedings of the second Artificial Intelligence in Primary Immunodeficiency..., J Allergy Clin Immunol
2025

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity., J Hum Immun
2024

Long-term assessment of haematological recovery following somatic genetic res..., Br J Haematol
2024

RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 i..., J Exp Med
2024

Clinical and functional spectrum of RAC2-related immunodeficiency., Blood
2023

Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry..., J Allergy Clin Immunol
2023

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary..., J Clin Immunol
2023

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity., Blood
2023

A multimorphic mutation in IRF4 causes human autosomal dominant combined immu..., Sci Immunol
2022

Inherited TNFSF9 deficiency causes broad Epstein-Barr virus infection with EB..., J Exp Med
2021

A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia an..., Haematologica
2020

Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among ..., J Allergy Clin Immunol Pract
2020

Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension ..., J Immunol
2020

Improving the diagnostic efficiency of primary immunodeficiencies with target..., J Allergy Clin Immunol
2020

Efficacy of ruxolitinib in subcutaneous panniculitis-like T-cell lymphoma and..., Blood Adv
2018

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculit..., Nat Genet
2018

PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies c..., J Allergy Clin Immunol
2018

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-K..., Front Immunol
2017

Mutations in the adaptor-binding domain and associated linker region of p110δ..., Haematologica
2017

Reticular dysgenesis: international survey on clinical presentation, transpla..., Blood
2017

Prenatal and postnatal presentations of corpus callosum agenesis with polymic..., Am J Med Genet A
2016

Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27..., J Exp Med
2016

Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of va..., J Allergy Clin Immunol
2016

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndr..., J Allergy Clin Immunol
2016

Clinical and immunologic phenotype associated with activated phosphoinositide..., J Allergy Clin Immunol
2015

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in hu..., Science
2010

Human CD14dim monocytes patrol and sense nucleic acids and viruses via TLR7 a..., Immunity

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Présentation

À propos

Publications scientifiques

Paediatric-onset autoimmune cytopenia: How can we reduce the long-term mortal..., Br J Haematol

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diver..., Elsevier BV

Novel de novo dominant PSMB10 varian..., Rockefeller University Press

A heterozygous USB1 variant linked to immunodeficiency., J Hum Immun

Proceedings of the second Artificial Intelligence in Primary Immunodeficiency..., J Allergy Clin Immunol

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity., J Hum Immun

Long-term assessment of haematological recovery following somatic genetic res..., Br J Haematol

RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 i..., J Exp Med

Clinical and functional spectrum of RAC2-related immunodeficiency., Blood

Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry..., J Allergy Clin Immunol

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary..., J Clin Immunol

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity., Blood

A multimorphic mutation in IRF4 causes human autosomal dominant combined immu..., Sci Immunol

Inherited TNFSF9 deficiency causes broad Epstein-Barr virus infection with EB..., J Exp Med

A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia an..., Haematologica

Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among ..., J Allergy Clin Immunol Pract

Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension ..., J Immunol

Improving the diagnostic efficiency of primary immunodeficiencies with target..., J Allergy Clin Immunol

Efficacy of ruxolitinib in subcutaneous panniculitis-like T-cell lymphoma and..., Blood Adv

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculit..., Nat Genet

PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies c..., J Allergy Clin Immunol

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-K..., Front Immunol

Mutations in the adaptor-binding domain and associated linker region of p110δ..., Haematologica

Reticular dysgenesis: international survey on clinical presentation, transpla..., Blood

Prenatal and postnatal presentations of corpus callosum agenesis with polymic..., Am J Med Genet A

Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27..., J Exp Med

Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of va..., J Allergy Clin Immunol

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndr..., J Allergy Clin Immunol

Clinical and immunologic phenotype associated with activated phosphoinositide..., J Allergy Clin Immunol

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in hu..., Science

Human CD14dim monocytes patrol and sense nucleic acids and viruses via TLR7 a..., Immunity