Immunology
Teams
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Jean-Laurent Casanova
>> Research Lab
Human genetics of infectious diseases : monogenic predisposition -
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Mickael Ménager
>> Research Lab and Platform
Inflammatory responses and transcriptomic networks in diseases -
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Alain Fischer
>> Reference Center for rare diseases
Reference Center for primary immunodeficiencies (CEREDIH)
Associated with the French Healthcare Network MARIH and the European Reference Network (ERN) RITA -
Pierre Quartier dit Maire
>> Reference Center for rare diseases
Reference center for inflammatory rheumatism and rare systemic autoimmune disea…
Associated with the French Healthcare Network FAI2R and the European Reference Network (ERN) RITA -
Imagine's Offers
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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)
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Other informations
Gene therapy
Hemophagocytic lymphohistiocytosis (HLH)Genotype Phenotype-
Cohorts
Pediatric and Adult
<10
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TNGS / WES / WGS*
CEDI
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Observational trials
NCT02113917: formation of a Cohort of HLHa Patients in Order to Study Their Physiopathological Characteristics
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Patient samples
Peripheral Blood Lymphocytes
Targets-
In vitro models
T cells
Macrophages
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In vivo models
STX11 KO mice
conditionnal STX11 flox/flox mice
conditionnal STXBP2 KO mice
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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
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TNGS / WES / WGS*
CEDI
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Patient samples
Peripheral Blood Lymphocytes
Targets-
In vitro models
T cells
Macrophages
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In vivo models
TIM3 KI deficient mice
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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 trialsCombined T and B cell immunodeficiency
Artemis deficiencyGenotype Phenotype-
Cohorts
ImmuneRep: pediatric
40
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TNGS / WES / WGS*
CEDI
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Patient samples
Fibroblastes
RNA
Targets-
In vitro models
SV40 fibroblasts
ProB murine cell lines
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In vivo models
DCLRE1C KO mice
DCLRE1C transgenic mice
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Specific targets
DCLRE1C (Artemis)
Therapeutics-
Specific biomarkers
PROMIDIS alpha: diagnostic biomarkers
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Protocols/Technics
V(D)J recombination analysis for the identification of NHEJ inhibitors
Clinical trialsAtaxia-telangiectasia (AT)Genotype Phenotype-
Cohorts
ImmuneRep: pediatric and adult
45
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TNGS / WES / WGS*
PID_Diag.V2
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Patient samples
RNA
Targets-
In vitro models
ProB murine cell lines
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Specific targets
ATM
Therapeutics-
Specific biomarkers
Promidis alpha: diagnostic biomarkers
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Protocols/Technics
V(D)J recombination analaysis for the identification of NHEJ inhibitors
Clinical trialsCernunnos-XLF deficiencyGenotype Phenotype-
Cohorts
ImmuneRep: Pediatric
10
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TNGS / WES / WGS*
CEDI
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Patient samples
Fibroblasts
RNA
Targets-
In vitro models
SV40 fibroblasts
ProB murine cell lines
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In vivo models
C57Bl/6J CRISPR-XLF KO mice
C57Bl/6J CRISPR-XLF conditional KO mice
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Specific targets
XRCC4-like factor (XLF, cernunnos)
Therapeutics-
Specific biomarkers
Promidis alpha: diagnostic biomarkers
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Protocols/Technics
V(D)J recombination analaysis for the identification of NHEJ inhibitors
Clinical trialsCombined immunodeficiency-enteropathy spectrumGenotype Phenotype-
Cohorts
Pediatric and Adult
<100
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TNGS / WES / WGS*
CEDI
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Observational trials
NCT02909244: study of Gut Microbiota in Primary Immune Deficiency, Possibly Associated With Inflammatory Bowel Disease (DIPobiota)
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Patient samples
Peripheral Blood Lymphocytes
Targets-
In vitro models
T cells
Dendritic cells
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In vivo models
TTC7A GFP
TTC7A KO mice
TTC7A KI mice
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Specific targets
TTC7A
TherapeuticsClinical trialsCoronin 1A deficiencyGenotype Phenotype-
Cohorts
Isolated pediatric cases
2
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TNGS / WES / WGS*
CEDI
Targets-
Specific targets
CORO1A
Therapeutics-
Protocols/Technics
V(D)J recombination analaysis for the identification of NHEJ inhibitors
Clinical trialsCTPS1 deficiencyGenotype Phenotype-
Cohorts
Pediatric
Less than 10
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TNGS / WES / WGS*
CEDI
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Observational trials
Martin E et al. Nature. 2014 Jun 12;510(7504):288-92
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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
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In vivo models
CTPS1 inactivation (conditional KO mice
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cre-CMV (all tissues)
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cre-VAV1 (hematopoietic tissues)
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cre-CD8 (CD8+ cells)
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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)
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Protocols/Technics
Detection of CTPS1 by FACS and WB
Screening cascade on HEK, JURKAT and PBMC
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Specific targets
CTPS1
RASGRP1
TherapeuticsClinical trialsDNA ligase IV deficienyGenotype Phenotype-
Cohorts
ImmuneRep: pediatric
10
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TNGS / WES / WGS*
CEDI
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Patient samples
Fibroblasts
RNA
Targets-
In vitro models
SV40 fibroblasts
ProB murine cell lines
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In vivo models
XRCC4 KO mice
XRCC4 KI mice
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Specific targets
LIG4
XRCC4
Therapeutics-
Specific biomarkers
Promidis alpha: diagnostic biomarkers
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Protocols/Technics
V(D)J recombination analaysis for the identification of NHEJ inhibitors
Clinical trialsHoyeraal-Hreidarsson Syndrome (HHS)Genotype Phenotype-
Cohorts
ImmuneRep: pediatric
20
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TNGS / WES / WGS*
CEDI
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Patient samples
Fibroblasts
Targets-
In vitro models
Fibroblasts
SV40 fibroblasts
SV40-hTERT fibroblasts
B-EBV fibroblasts
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In vivo models
Apollo KO mice
Apollo KI mice
PARN KO mice
PARN KI mice
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Specific targets
DCLRE1B/SNM1B/Apollo
DKC1
PARN
Therapeutics-
Specific biomarkers
Promidis alpha: diagnostic biomarkers
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Protocols/Technics
Telomere restriction fragment (TRF) analysis
Clinical trialsRAD50 deficiencyGenotype Phenotype-
Cohorts
Isolated pediatric case
1
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Patient samples
Fibroblasts
Targets-
In vitro models
Fibroblasts
SV40-fibroblasts
SV40-hTERT fibroblasts
B-EBV
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In vivo models
RAD50 KI mice
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Specific targets
RAD50
TherapeuticsClinical trialsRAG1/2 deficiencyGenotype Phenotype-
Cohorts
ImmuneRep: Pediatric and Adult
100
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TNGS / WES / WGS*
CEDI
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Patient samples
Fibroblasts
Targets-
In vitro models
ProB murine cell lines
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Specific targets
RAG1
RAG2
Therapeutics-
Specific biomarkers
Promidis alpha: diagnostic biomarkers
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Protocols/Technics
V(D)J recombination analaysis for the identification of NHEJ inhibitors
Clinical trialsSevere Combined Immunodeficiency (SCID) X1Genotype PhenotypeTargets-
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
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Patient samples
Fibroblasts
Targets-
In vitro models
Fibroblasts
SV40-fibroblasts
SV40-hTERT fibroblasts
B-EBV
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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 trialsImmune dysregulation with immunodeficiency
Aicardi-Goutières syndrome (AGS)Genotype Phenotype-
Cohorts
Mainly pediatric
>100
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TNGS / WES / WGS*
Interferonopathies
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Patient samples
DNA
RNA
Serum/plasma
CSF
PBMCs
Fibroblasts
LCLs
Targets-
In vitro models
HEK
HELA
THP1
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Protocols/Technics
Singe-cell transcriptomics
CITE-seq protocol
Network inference analysis
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Specific targets
TREX1
RNASEH2A
RNASEH2B
RNASEH2C
TherapeuticsClinical 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
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Patient samples
Fibroblasts
PBMCs
Targets-
In vitro models
FAS-/- cell lines
FASL-/- cell lines
T cells
B-EBV cells lines
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In vivo models
C57Bl/6J CRISP-PDCD11 KI mice
TNF-related apoptosis-inducing ligand (TRAIL) mice
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Protocols/Technics
FAS-GFP, FAS-RFP fusion protein
Apoptosis evaluation analysis
T-reg suppression analysis
Phenotyping of T-reg CD4-/CD8-
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Specific targets
FAS
FASL
PDCD11
Therapeutics-
Specific biomarkers
soluble FASL + IL10 + T lymphocytes CD4-/CD8-
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Protocols/Technics
FAS-GFP expression vector
Companion tests for immunomonitoring of immunosuppressive drugs
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Specific therapeutic approaches
Lentiviral-FAS gene therapy
Small molecules (mTOR inhibitors)
Clinical trialsAutoimmune LymphoProliferative Syndrome (ALPS) Unknown genetic basesGenotype Phenotype-
Cohorts
Please, contact us!
TargetsTherapeuticsClinical trialsCOPA syndromeGenotype Phenotype-
Cohorts
Pediatric and adults
10
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TNGS / WES / WGS*
Interferonopathies
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Patient samples
DNA
RNA
serum/plasma
CSF
PBMCs
Fibroblasts
LCLs
Targets-
In vitro models
HEK
HELA
THP1
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Specific targets
COPA
TherapeuticsClinical trialsEvans syndromeGenotype Phenotype-
Cohorts
Please, contact us!
TargetsTherapeuticsClinical trialsImmune dysregulation, Polyendocrinopathy, Enteropathy X-linked syndrome (IPEX)Genotype Phenotype-
Cohorts
Pediatric
26 (20 FOXP3, 6 CD25)
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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-
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Specific targets
FOXP3
CD25
Therapeutics-
Patents
Recombinant vectors suitable for the treatment of IPEX syndrome
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Specific therapeutic approaches
Lentiviral gene addition FOXP3 therapy
Small molecule / mTOR inhibitors
Clinical trialsImmune dysregulation, Polyendocrinopathy, Enteropathy X-linked syndrome (IPEX) likeGenotype Phenotype-
Cohorts
Pediatric
10
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Patient samples
Blood
PBMC
Primary T cells
Targets-
Protocols/Technics
Apoptosis evaluation
T-reg suppression analysis
Phenotyping of T-reg, CD4- CD8-
TherapeuticsClinical trialsJuvenile Myelomonocytic Leukemia (JMML)Genotype Phenotype-
Cohorts
Please, contact us!
TargetsTherapeuticsClinical trialsPediatric Systemic Lupus Eryhtematous (SLE)Genotype Phenotype-
Cohorts
Please, contact us!
TargetsTherapeuticsClinical trialsSTING-associated vasculopathy with onset in infancy (SAVI)Genotype Phenotype-
Cohorts
Mainly pediatric
20
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TNGS / WES / WGS*
Interferonopathies
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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
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In vivo models
STING-KI mice (V154M CRISPR/Cas9)
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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
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Specific targets
TMEM173
TherapeuticsClinical trialsImmunodeficiency predominantly affecting antibody production
AgammaglobulinemiaGenotype PhenotypeTargetsTherapeuticsClinical trialsSyndrome with combined immunodeficiency
Ataxia-telangiectasia (AT)Genotype PhenotypeTargetsTherapeuticsClinical trialsNetherton syndrome (NS)Genotype PhenotypeTargetsTherapeuticsClinical trialsSAMEC syndromeGenotype PhenotypeTargetsTherapeuticsClinical trialsWiskott-Aldrich syndrome (WAS)Genotype PhenotypeTargetsTherapeuticsClinical trials -
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Autoinflammatory syndrome with immune deficiencyGenotype PhenotypeTargetsTherapeuticsClinical trials
Genetic susceptibility to infections
Mendelian susceptibility to mycobacterial diseasesGenotype PhenotypeTargetsTherapeuticsClinical trialsPrimary immunodeficiency with post-measles-mumps-rubella vaccine viral infectionGenotype PhenotypeTargetsTherapeuticsClinical trialsImmunodeficiency due to a complement cascade protein anomalyGenotype PhenotypeTargetsTherapeuticsClinical trialsQuantitative and/or qualitative congenital phagocyte defect
Chronic Granulomatous disease (CGD)Genotype PhenotypeTargetsTherapeuticsClinical trials -
Primary immunodeficiency due to a defect in actin dynamicsGenotype Phenotype
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Patient samples
Peripheral Blood Lymphocytes
Targets-
In vitro models
Human and murine T cells
Human and murine dendritic cells
B-EBV cells
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In vivo models
TTC7A GFP mice
TTC7A KO mice
TTC7A KI mice
conditional STXBP2 actin GFP mice
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Protocols/Technics
Leukocytes' migration in microdevices to determine cell polarity and kynetic parameters (cell speed, chemotactic and chemokynetic responses)
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Specific targets
TTC7A
DOCK8
WAS
CDC42
ARPC1B
STXBP2
TherapeuticsClinical trialsPrimary immunodeficiency due to a defect in DNA repairingGenotype PhenotypeTargetsTherapeuticsClinical trials -
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Graft-versus host diseaseGenotype PhenotypeTargetsTherapeutics
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Patents
WO/2014/079946: Methods for determining the risk of acute graft versus host disease
Clinical trials -
Contacts
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Erminia Rubino
Business development manager
- erminia.rubino@institutimagine.org
- +33 1 42 75 46 65
