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  • hemophagocytic syndrome

    Familial hemophagocytic lymphohistiocytosis (FHL)
    Genotype Phenotype
    • TNGS / WES / WGS*

      PID_Diag.V2

    Targets
    • Specific targets

      Munc13-4

      PRF1

      STX11

      STXBP2

      UNC13D

    Therapeutics
    • Specific therapeutic approaches

      Gene therapy

    Clinical trials
    • NCT

      Lentiviral gene therapy for treating FHL3 patients (Munc)

    • Other informations

      Gene therapy

    Hemophagocytic lymphohistiocytosis (HLH)
    Genotype Phenotype
    • Cohorts

      Pediatric and Adult

      <10

    • TNGS / WES / WGS*

      CEDI

    • Observational trials

      NCT02113917: formation of a Cohort of HLHa Patients in Order to Study Their Physiopathological Characteristics

    • Patient samples

      Peripheral Blood Lymphocytes

    Targets
    • In vitro models

      T cells

      Macrophages

    • In vivo models

      STX11 KO mice

      conditionnal STX11 flox/flox mice

      conditionnal STXBP2 KO mice

    • Specific targets

      PRF1, RAB27A, UNC13D, STX11, STXBP2, LYST

    Therapeutics
    • Protocols/Technics

      T cell degranulation and killing analysis

      Immune synapse formation analysis

      Evaluation of the innate immune response

      Evaluation of the viral infection (LCMV)

    Clinical trials
    • NCT

      NCT02472054: phase I/II treatment of Familiar Lymphohistiocytosis (C-HLH)

      NCT02069899 : multicenter Study for the Long-term Follow-up of HLH Patients Who Received Treatment With NI-0501, an Anti-interferon Gamma Monoclonal Antibody

    SPTCL-Hemophagocytic lymphohistiocytosis (SPTCL-HLH)
    Genotype Phenotype
    • Cohorts

      Pediatric and Adult

      <10

    • TNGS / WES / WGS*

      CEDI

    • Patient samples

      Peripheral Blood Lymphocytes

    Targets
    • In vitro models

      T cells

      Macrophages

    • In vivo models

      TIM3 KI deficient mice

    • Specific targets

      TIM3

    Therapeutics
    • Protocols/Technics

      T cell degranulation and killing analysis

      Immune synapse formation analysis

      Evaluation of the innate immune response

      Evaluation of the viral infection (LCMV)

    Clinical trials

    Combined T and B cell immunodeficiency

    Artemis deficiency
    Genotype Phenotype
    • Cohorts

      ImmuneRep: pediatric

      40

    • TNGS / WES / WGS*

      CEDI

    • Patient samples

      Fibroblastes

      RNA

    Targets
    • In vitro models

      SV40 fibroblasts

      ProB murine cell lines

    • In vivo models

      DCLRE1C KO mice

      DCLRE1C transgenic mice

    • Specific targets

      DCLRE1C (Artemis)

    Therapeutics
    • Specific biomarkers

      PROMIDIS alpha: diagnostic biomarkers

    • Protocols/Technics

      V(D)J recombination analysis for the identification of NHEJ inhibitors

    Clinical trials
    Ataxia-telangiectasia (AT)
    Genotype Phenotype
    • Cohorts

      ImmuneRep: pediatric and adult

      45

    • TNGS / WES / WGS*

      PID_Diag.V2

    • Patient samples

      RNA

    Targets
    • In vitro models

      ProB murine cell lines

    • Specific targets

      ATM

    Therapeutics
    • Specific biomarkers

      Promidis alpha: diagnostic biomarkers

    • Protocols/Technics

      V(D)J recombination analaysis for the identification of NHEJ inhibitors

    Clinical trials
    Cernunnos-XLF deficiency
    Genotype Phenotype
    • Cohorts

      ImmuneRep: Pediatric

      10

    • TNGS / WES / WGS*

      CEDI

    • Patient samples

      Fibroblasts

      RNA

    Targets
    • In vitro models

      SV40 fibroblasts

      ProB murine cell lines

    • In vivo models

      C57Bl/6J CRISPR-XLF KO mice

      C57Bl/6J CRISPR-XLF conditional KO mice

    • Specific targets

      XRCC4-like factor (XLF, cernunnos)

    Therapeutics
    • Specific biomarkers

      Promidis alpha: diagnostic biomarkers

    • Protocols/Technics

      V(D)J recombination analaysis for the identification of NHEJ inhibitors

    Clinical trials
    Combined immunodeficiency-enteropathy spectrum
    Genotype Phenotype
    • Cohorts

      Pediatric and Adult

      <100

    • TNGS / WES / WGS*

      CEDI

    • Observational trials

      NCT02909244: study of Gut Microbiota in Primary Immune Deficiency, Possibly Associated With Inflammatory Bowel Disease (DIPobiota)

    • Patient samples

      Peripheral Blood Lymphocytes

    Targets
    • In vitro models

      T cells

      Dendritic cells

    • In vivo models

      TTC7A GFP

      TTC7A KO mice

      TTC7A KI mice

    • Specific targets

      TTC7A

    Therapeutics
    Clinical trials
    Coronin 1A deficiency
    Genotype Phenotype
    • Cohorts

      Isolated pediatric cases

      2

    • TNGS / WES / WGS*

      CEDI

    Targets
    • Specific targets

      CORO1A

    Therapeutics
    • Protocols/Technics

      V(D)J recombination analaysis for the identification of NHEJ inhibitors

    Clinical trials
    CTPS1 deficiency
    Genotype Phenotype
    • Cohorts

      Pediatric

      Less than 10

    • TNGS / WES / WGS*

      CEDI

    • Observational trials

      Martin E et al. Nature. 2014 Jun 12;510(7504):288-92

    • Patient samples

      PBMC

      Fibroblasts

    Targets
    • In vitro models

      CTPS1 inactivation (KO HEK, KO JURKAT)

      CTPS2 inactivation (KO HEK)

      CTPS1 and CTPS2 inactivation (double KO HEK)

      CTPS1 KO HEK complemented with CTPS1-GFP/DesRED

      CTPS1 KO JURKAT complemented with CTPS1-GFP

      CTPS2 KO HEK complemented with CTPS2-GFP/DesRED

      CTPS2 KO JURKAT complemented with CTPS2-GFP

      CTPS1 KO JURKAT complemented with CTPS1 mutants

    • In vivo models

      CTPS1 inactivation (conditional KO mice

      • cre-CMV (all tissues)

      • cre-VAV1 (hematopoietic tissues)

      • cre-CD8 (CD8+ cells)

      • cre-CD4+ (thymocytes CD4+CD8+))

      CTPS1 inactivation (KI mice mimicking human mutation)

      CTPS1 inductible (KO mice under tamoxifen treatment)

      CTPS2 inactivation (conditional KO mice under cre-CMV)

    • Protocols/Technics

      Detection of CTPS1 by FACS and WB

      Screening cascade on HEK, JURKAT and PBMC

    • Specific targets

      CTPS1

      RASGRP1

    Therapeutics
    Clinical trials
    DNA ligase IV deficieny
    Genotype Phenotype
    • Cohorts

      ImmuneRep: pediatric

      10

    • TNGS / WES / WGS*

      CEDI

    • Patient samples

      Fibroblasts

      RNA

    Targets
    • In vitro models

      SV40 fibroblasts

      ProB murine cell lines

    • In vivo models

      XRCC4 KO mice

      XRCC4 KI mice

    • Specific targets

      LIG4

      XRCC4

    Therapeutics
    • Specific biomarkers

      Promidis alpha: diagnostic biomarkers

    • Protocols/Technics

      V(D)J recombination analaysis for the identification of NHEJ inhibitors

    Clinical trials
    Hoyeraal-Hreidarsson Syndrome (HHS)
    Genotype Phenotype
    • Cohorts

      ImmuneRep: pediatric

      20

    • TNGS / WES / WGS*

      CEDI

    • Patient samples

      Fibroblasts

    Targets
    • In vitro models

      Fibroblasts

      SV40 fibroblasts

      SV40-hTERT fibroblasts

      B-EBV fibroblasts

    • In vivo models

      Apollo KO mice

      Apollo KI mice

      PARN KO mice

      PARN KI mice

    • Specific targets

      DCLRE1B/SNM1B/Apollo

      DKC1

      PARN

    Therapeutics
    • Specific biomarkers

      Promidis alpha: diagnostic biomarkers

    • Protocols/Technics

      Telomere restriction fragment (TRF) analysis

    Clinical trials
    RAD50 deficiency
    Genotype Phenotype
    • Cohorts

      Isolated pediatric case

      1

    • Patient samples

      Fibroblasts

    Targets
    • In vitro models

      Fibroblasts

      SV40-fibroblasts

      SV40-hTERT fibroblasts

      B-EBV

    • In vivo models

      RAD50 KI mice

    • Specific targets

      RAD50

    Therapeutics
    Clinical trials
    RAG1/2 deficiency
    Genotype Phenotype
    • Cohorts

      ImmuneRep: Pediatric and Adult

      100

    • TNGS / WES / WGS*

      CEDI

    • Patient samples

      Fibroblasts

    Targets
    • In vitro models

      ProB murine cell lines

    • Specific targets

      RAG1

      RAG2

    Therapeutics
    • Specific biomarkers

      Promidis alpha: diagnostic biomarkers

    • Protocols/Technics

      V(D)J recombination analaysis for the identification of NHEJ inhibitors

    Clinical trials
    Severe Combined Immunodeficiency (SCID) X1
    Genotype Phenotype
    Targets
    • Specific targets

      γc-deficiency

    Therapeutics
    • Specific therapeutic approaches

      Gene therapy

    Clinical trials
    • NCT

      NCT03879876 : phase I/II safety and efficacy study of human T lymphoid progenitor (HTLP) injection after partially HLA compatible allogeneic hematopoietic stem cell transplantation in SCID patients (HTLP Necker)

      NCT01410019: phase I/II gene therapy for X-linked severe combined immunodeficiency (SCID2)

       

    Shwachman-Diamond Syndrome (SDS)
    Genotype Phenotype
    • Cohorts

      Pediatric and adults

      20

    • Patient samples

      Fibroblasts

    Targets
    • In vitro models

      Fibroblasts

      SV40-fibroblasts

      SV40-hTERT fibroblasts

      B-EBV

    • Specific targets

      SBDS

    Therapeutics
    • Protocols/Technics

      V(D)J recombination analaysis for the identification of NHEJ inhibitors

      Compensatory somatic mutation creation analysis in leukemogenesis

    Clinical trials

    Immune dysregulation with immunodeficiency

    Aicardi-Goutières syndrome (AGS)
    Genotype Phenotype
    • Cohorts

      Mainly pediatric

      >100

    • TNGS / WES / WGS*

      Interferonopathies

    • Patient samples

      DNA

      RNA

      Serum/plasma

      CSF

      PBMCs

      Fibroblasts

      LCLs

    Targets
    • In vitro models

      HEK

      HELA

      THP1

    • Protocols/Technics

      Singe-cell transcriptomics

      CITE-seq protocol

      Network inference analysis

    • Specific targets

      TREX1

      RNASEH2A

      RNASEH2B

      RNASEH2C

    Therapeutics
    Clinical trials
    • NCT

      NCT02363452: phase II Pilot Clinical Trial of Reverse Transcriptase Inhibitors in Children With Aicardi-Goutières Syndrome (AGS)

    Autoimmune LymphoProliferative Syndrome (ALPS)
    Genotype Phenotype
    • Cohorts

      Pediatric

      >100

    • Patient samples

      Fibroblasts

      PBMCs

    Targets
    • In vitro models

      FAS-/- cell lines

      FASL-/- cell lines

      T cells

      B-EBV cells lines

    • In vivo models

      C57Bl/6J CRISP-PDCD11 KI mice

      TNF-related apoptosis-inducing ligand (TRAIL) mice

    • Protocols/Technics

      FAS-GFP, FAS-RFP fusion protein

      Apoptosis evaluation analysis

      T-reg suppression analysis

      Phenotyping of T-reg CD4-/CD8-

    • Specific targets

      FAS

      FASL

      PDCD11

    Therapeutics
    • Specific biomarkers

      soluble FASL + IL10 + T lymphocytes CD4-/CD8-

    • Protocols/Technics

      FAS-GFP expression vector

      Companion tests for immunomonitoring of immunosuppressive drugs

    • Specific therapeutic approaches

      Lentiviral-FAS gene therapy

      Small molecules (mTOR inhibitors)

    Clinical trials
    Autoimmune LymphoProliferative Syndrome (ALPS) Unknown genetic bases
    Genotype Phenotype
    • Cohorts

      Please, contact us!

    Targets
    Therapeutics
    Clinical trials
    COPA syndrome
    Genotype Phenotype
    • Cohorts

      Pediatric and adults

      10

    • TNGS / WES / WGS*

      Interferonopathies

    • Patient samples

      DNA

      RNA

      serum/plasma

      CSF

      PBMCs

      Fibroblasts

      LCLs

    Targets
    • In vitro models

      HEK

      HELA

      THP1

    • Specific targets

      COPA

    Therapeutics
    Clinical trials
    Evans syndrome
    Genotype Phenotype
    • Cohorts

      Please, contact us!

    Targets
    Therapeutics
    Clinical trials
    Immune dysregulation, Polyendocrinopathy, Enteropathy X-linked syndrome (IPEX)
    Genotype Phenotype
    • Cohorts

      Pediatric

      26 (20 FOXP3, 6 CD25)

    • Patient samples

      Blood

      PBMC

      Primary T cells

    Targets
    • Protocols/Technics

      FOXP3-GFP wt mut-AAV

      FOXP3-GFP FOXP3-RFP fusion protein

      Apoptosis evaluation

      T-reg suppression analysis

      Phenotyping of T-reg, CD4- CD8-

    • Specific targets

      FOXP3

      CD25

    Therapeutics
    • Patents

      Recombinant vectors suitable for the treatment of IPEX syndrome

    • Specific therapeutic approaches

      Lentiviral gene addition FOXP3 therapy

      Small molecule / mTOR inhibitors

    Clinical trials
    Immune dysregulation, Polyendocrinopathy, Enteropathy X-linked syndrome (IPEX) like
    Genotype Phenotype
    • Cohorts

      Pediatric

      10

    • Patient samples

      Blood

      PBMC

      Primary T cells

    Targets
    • Protocols/Technics

      Apoptosis evaluation

      T-reg suppression analysis

      Phenotyping of T-reg, CD4- CD8-

    Therapeutics
    Clinical trials
    Juvenile Myelomonocytic Leukemia (JMML)
    Genotype Phenotype
    • Cohorts

      Please, contact us!

    Targets
    Therapeutics
    Clinical trials
    Pediatric Systemic Lupus Eryhtematous (SLE)
    Genotype Phenotype
    • Cohorts

      Please, contact us!

    Targets
    Therapeutics
    Clinical trials
    STING-associated vasculopathy with onset in infancy (SAVI)
    Genotype Phenotype
    • Cohorts

      Mainly pediatric

      20

    • TNGS / WES / WGS*

      Interferonopathies

    • Patient samples

      DNA

      RNA

      Serum/plasma

      CSF

      PBMCs

      Fibroblasts

      LCLs

    Targets
    • In vitro models

      B-EBV-transformed B lymphocytes

      SV40 transformed STING-patient fibroblasts

      iPS cells

      IFN beta promoter-reporter (GFP/RFP/Luc) cell lines

    • In vivo models

      STING-KI mice (V154M CRISPR/Cas9)

       

    • Protocols/Technics

      IFNa IFNb dosage in patients' cells supernatants, IFN signature

      pSTAT3 and STING intracellular staining

      pTBK1 elisa test

      Apoptosis evaluation

      T-reg suppression analysis

      Phenotyping of T-reg CD4-/CD8-

      Single-cell transcriptomics

      CITE-seq protocol

      Network inference analysis

    • Specific targets

      TMEM173

    Therapeutics
    Clinical trials

    Immunodeficiency predominantly affecting antibody production

    Agammaglobulinemia
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    Syndrome with combined immunodeficiency

    Ataxia-telangiectasia (AT)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Netherton syndrome (NS)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    SAMEC syndrome
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Wiskott-Aldrich syndrome (WAS)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
  • Autoinflammatory syndrome with immune deficiency
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    Genetic susceptibility to infections

    Mendelian susceptibility to mycobacterial diseases
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    Immunodeficiency due to a complement cascade protein anomaly
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    Quantitative and/or qualitative congenital phagocyte defect

    Chronic Granulomatous disease (CGD)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
  • Primary immunodeficiency due to a defect in actin dynamics
    Genotype Phenotype
    • Patient samples

      Peripheral Blood Lymphocytes

    Targets
    • In vitro models

      Human and murine T cells

      Human and murine dendritic cells

      B-EBV cells

    • In vivo models

      TTC7A GFP mice

      TTC7A KO mice

      TTC7A KI mice

      conditional STXBP2 actin GFP mice

    • Protocols/Technics

      Leukocytes' migration in microdevices to determine cell polarity and kynetic parameters (cell speed, chemotactic and chemokynetic responses)

    • Specific targets

      TTC7A

      DOCK8

      WAS

      CDC42

      ARPC1B

      STXBP2

    Therapeutics
    Clinical trials
    Primary immunodeficiency due to a defect in DNA repairing
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
  • Graft-versus host disease
    Genotype Phenotype
    Targets
    Therapeutics
    • Patents

      WO/2014/079946: Methods for determining the risk of acute graft versus host disease

    Clinical trials

Contacts

  • Nicolas Doulet

    Nicolas DOULET

    Business development manager

    • nicolas.doulet@institutimagine.org
    • +33(0)1 42 75 42 55

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