Immunology
Acquired immunodeficiency
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Acquired immune deficiency syndrome (AIDS/HIV)
Team
Allergic disorders
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Severe allergic asthma
Team
Autoimmune diseases
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Autoimmune cytopenias
Samples
Samples from patients with autoimmune cytopenias
Patient Cohorts
Patient cohort
Autoimmune hepatitis
Samples
Samples from patients with autoimmune hepatitis (mTOR – MALPTOR3 – TSE2 – MPKGR)
Patient Cohorts
Patients with autoimmune hepatitis (mTOR – MALPTOR3 – TSE2 – MPKGR)
Alopecia
RAS-associated lymphoproliferative disease (RALD)
Coagulation disorders
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Gray platelet syndrome
Infectious diseases
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Cytomegalovirus infection (CMV)
clinical trial
NCT05085366 – A Study to Evaluate the Efficacy Safety and Immunogenicity of mRNA-1647 Cytomegalovirus (CMV) Vaccine in Healthy Participants 16 to 40 Years of Age
clinical trial
NCT04732260 – Prenatal Treatment of Congenital Cytomegalovirus Infection With Letermovir Randomized Against Valaciclovir – STEP 1 (CYMEVAL3-STEP1)
clinical trial
NCT04822142 – Congenital CYtoMEgalovirus Infection in VIEtnam (CYMEVIE)
clinical trial
NCT05319353 – A Study to Evaluate the Safety and Tolerability Pharmacokinetics and Antiviral Activity of Maribavir for the Treatment of Children and Teenage Transplant Recipients With CMV Infection
clinical trial
NCT05446571 – Prenatal Treatment of Congenital Cytomegalovirus Infection With Letermovir Versus Valaciclovir
Severe infection diseases
Enteric virus infection associated with hepatitis (EVAH)
Coronavirus disease 2019 (COVID-19/Sars-Cov2 infection)
Team
Intestinal immune disorders
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Refractory celiac disease type (RCD2)
Samples
Patient-derived EATL cells
In vitro models
Patient-derived EATL cells
In vivo models
Patient-derived EATL cells grafted mice
Patient Cohorts
Patient cohort
PTPN2 haploinsufficiency
Monogenic disorders of the gut barrier
Enterocolitis
Enteropathy-associated T-cell lymphoma (EATL)
In vivo models
Patient-derived EATL cells grafted mice
In vitro models
RCD2 patient-derived EATL cells
Samples
RCD2 patient-derived EATL cells
Congenital diarrheas
Autoimmune enteropathies
Celiac disease
Samples
From patients with Celiac disease
Patient Cohorts
Patient cohort
Other primary immunodeficiency
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Primary immunodeficiencies
clinical trial
NCT04581460 – Primitive Immunodeficiency and Pregnancy
Primary immunodeficiency due to a defect in actin dynamics
In vitro models
Human and muriHuman and murine dendritic cells – B-EBV cells
Protocols
Leukocytes’ migration in microdevices to determine cell polarity and kynetic parameters (cell speed – chemotactic and chemokynetic responses)
In vivo models
Mice – STXBP2 conditional KO (actin GFP)
In vivo models
Mice – TTC7A GFP
In vivo models
Mice – TTC7A KI
In vivo models
Mice – TTC7A KO
Samples
Peripheral Blood Lymphocytes (Primary immunodeficiency due to a defect in actin dynamics)
Primary immunodeficiency due to a defect in DNA repairing
Inherited severe allergies
Chronic active Epstein Barr virus infection (CAEBV)
Samples
From patients with chronic active Epstein Barr virus infection (CAEBV)
Patient Cohorts
Patient cohort
Team
Primary immunodeficiency adaptive immunity
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Aicardi-Goutières syndrome (AGS)
Samples
Cell lines from patients with AGS
In vitro models
EBV-B
In vitro models
HEK cell line
In vitro models
HELA cell line
Protocols
Singe-cell transcriptomics – CITE-seq protocol – Network inference analysis
In vitro models
THP1 cell line
Patient Cohorts
>100 patients (mainly pediatric)
STING-associated vasculopathy with onset in infancy (SAVI)
In vitro models
Fibroblasts from patients
Protocols
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
In vitro models
iPSC from patients
In vitro models
PBMCs from patients
In vivo models
STING-KI mice (V154M CRISPR/Cas9)
Patient Cohorts
20 patients (mainly pediatric)
Systemic lupus eryhtematous (SLE)
Patient Cohorts
Patient cohort
SPTCL-hemophagocytic lymphohistiocytosis (SPTCL-HLH)
Samples
PBMCs
Protocols
T cell degranulation and killing analysis – Immune synapse formation analysis – Evaluation of the innate immune response – Evaluation of the viral infection (LCMV)
In vivo models
TIM3 KI deficient mice
Patient Cohorts
< 10 patients (pediatric and adult)
Shwachman-Diamond syndrome (SDS)
In vitro models
Fibroblasts/ SV40-fibroblasts/ SV40-hTERT fibroblasts/ B-EBV
In vitro models
From patients EBV-B – SDS
In vitro models
From Patients Fibroblasts SV40 – SDS
Samples
From Patients with Fibroblasts
Samples
From patients with fibroblasts
In vitro models
From Patients with Fibroblasts SV40-hTERT – SDS
Protocols
V(D)J recombination analaysis for the identification of NHEJ inhibitors/ Compensatory somatic mutation creation analysis in leukemogenesis
Protocols
V(D)J recombination analaysis for the identification of NHEJ inhibitors/ Compensatory somatic mutation creation analysis in leukemogenesis
Patient Cohorts
20 Pediatirc and adults (Shwachman-Diamond Syndrome (SDS))
Patient Cohorts
20 Pediatric and adults (SDS)
Severe‐combined immunodeficiency (SCID)
clinical trial
NCT03879876 – Safety and Efficacy Study of Human T Lymphoid Progenitor (HTLP) Injection After Partially HLA Compatible Allogeneic Hematopoietic Stem Cell Transplantation in SCID Patients
clinical trial
NCT04246840 – Study Through Imaging of Visceral Lymphoid Organs in Patients With SCID Who Have Recieved Bone Marrow Allograft
Juvenile myelomonocytic leukemia (JMML)
Patient Cohorts
Patient cohort
Hoyeraal-Hreidarsson syndrome (HHS)
Protocols
Telomere restriction fragment (TRF) analysis
In vitro models
Fibroblasts – SV40 fibroblasts – SV40-hTERT fibroblasts – B-EBV fibroblasts (HHS)
Samples
From Patients with Fibroblasts SV40 (HHS)
Samples
From Patients with Fibroblasts SV40-hTERT (HHS)
In vivo models
Mice – Apollo KO and KI (HHS)
In vivo models
Mice – PARN KO and KI (HHS)
Patient Cohorts
20 pediatric ImmuneRep (HHS)
SAMEC syndrome
Wiskott-Aldrich syndrome (WAS)
Hemophagocytic lymphohistiocytosis (HLH)
Samples
From Patients with HLH (PBMCs/ Serum/Plasma/Fecal Samples/Urine/Blood)
In vivo models
STX11 cKO mice
In vivo models
STX11 KO mice
In vivo models
STXBP2 cKO mice
Protocols
T cell degranulation and killing analysis – Immune synapse formation analysis – Evaluation of the innate immune response Evaluation of the viral infection (LCMV)
In vitro models
T-cells – Macrophages (HLH)
Patient Cohorts
< 10 patients (pediatric and adults)
clinical trial
NCT05063110 – Treatment of Non Severe Hemophagocytosis Lymphohistiocytosis With ITACITINIB (HLH-JAK)
clinical trial
NCT05762640 – Ruxolitinib as First Line Treatment in Primary Haemophagocytic Lymphohistiocytosis (R-HLH)
SOCS1 haploinsufficiency
RAG1/2 deficiency
Samples
Fibroblats frompatients
In vitro models
From patients with RAG1/2 deficiency (ProB murine cells)
In vitro models
RAG1 – RAG2 deficient cell lines
Protocols
V(D)J recombination analaysis for the identification of NHEJ inhibitors
Patient Cohorts
ImmuneRep: Pediatric and Adult 100 (RAG1/2 deficiency)
RAD50 deficiency
In vitro models
EBV-B cells – RAD50 deficiency
Samples
Fibroblast – RAD50 deficiency
In vitro models
Fibroblasts SV40 – RAD50 deficiency
In vivo models
RAD50 KI mice
In vitro models
SV40-hTERT fibroblasts RAD50 deficiency
Patient Cohorts
1 isolated patient – RAD50 deficiency
Immune dysregulation | Polyendocrinopathy | Enteropathy X-linked syndrome (IPEX) like
Protocols
FOXP3-GFP wt mut-AAV/ FOXP3-GFP FOXP3-RFP fusion protein/ Apoptosis evaluation/ T-reg suppression analysis/ Phenotyping of T-reg – CD4- CD8-
Samples
From Patients with Blood – PBMC – Primary T cells
Patient Cohorts
10 pediatric (IPEX-like)
Immune dysregulation | Polyendocrinopathy | Enteropathy X-linked syndrome (IPEX)
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3)
Evans syndrome
DNA ligase IV deficiency
Samples
From pathiens with SV40 fibroblasts – ProB murine cell lines DNA ligase IV deficiency
In vitro models
From patients with Fibroblasts SV40 (DNA ligase IV deficiency)
Protocols
V(D)J recombination analaysis for the identification of NHEJ inhibitors
In vivo models
XRCC4 KO mice XRCC4 KI mice (DNA ligase IV deficiency)
Patient Cohorts
10 ImmuneRep: pediatric (DNA ligase IV deficieny)
CTPS1 deficiency
Protocols
Detection of CTPS1 by FACS and WB/ Screening cascade on HEK – JURKAT and PBMC
Samples
From patients with PBMC and Fibroblasts (CTPS1 deficiency)
In vivo models
Mice – CTPS1 or CTPS2 conditional or inducible KO
In vitro models
Screening cascade on HEK – JURKAT and PBMC
Patient Cohorts
Less than 10 Pediatric (CTPS1 deficiency)
Coronin 1A deficiency
Protocols
V(D)J recombination analaysis for the identification of NHEJ inhibitors
Patient Cohorts
2 Isolated pediatric cases Coronin 1A deficiency
COPA syndrome
Samples
From patients with COPA
In vitro models
From patients with COPA (HEK – HELA – THP1)
Patient Cohorts
10 pediatric and adults (COPA)
Combined immunodeficiency-enteropathy spectrum
Samples
From Patients with Peripheral Blood Lymphocytes
Samples
From patients with Peripheral Blood Lymphocytes
In vivo models
Mice – TTC7A GFP
In vivo models
Mice – TTC7A KI
In vivo models
Mice – TTC7A KO
In vitro models
T cells/ Dendritic cells
In vitro models
T cells/ Dendritic cells
In vivo models
TTC7A GFP mice
In vivo models
TTC7A KI mice
In vivo models
TTC7A KO mice
Patient Cohorts
< 100 Pediatric and Adult (Combined immunodeficiency-enteropathy)
Patient Cohorts
< 100 Pediatric and Adult (TTC7A deficiency)
Cernunnos-XLF deficiency
Samples
From patients with Fibroblasts SV40 – Cernussos-XLF deficiency
In vitro models
From people with SV40 fibroblasts – ProB murine cell lines (XLF – cernunnos)
In vivo models
Mice – C57Bl/6J CRISPR-XLF conditional KO (XLF – cernunnos)
In vivo models
Mice – C57Bl/6J CRISPR-XLF KO (XLF – cernunnos)
Protocols
V(D)J recombination analaysis for the identification of NHEJ inhibitors
Patient Cohorts
10 ImmuneRep: Pediatric (Cernussos-XLF deficiency)
Autoimmune lymphoproliferative syndrome (ALPS)
In vitro models
FAS – FASL – PDCD11 deficient cell lines
Protocols
FAS-GFP – FAS-RFP fusion protein Apoptosis evaluation analysis T-reg suppression analysis Phenotyping of T-reg CD4-/CD8-
Protocols
FAS-GFP expression vector Companion tests for immunomonitoring of immunosuppressive drugs
Samples
From patienst with PBMCs ALPS with FAS-mutations
In vitro models
From patients with PBMCs ALPS with FAS-mutations
In vivo models
Mice – C57Bl/6J CRISP-PDCD11 KI (ALPS)
In vivo models
Mice – LPRCG mouse strain on B6 background (homozygous FAS c.786 T>A) (ALPS)
Patient Cohorts
> 100 Pediatric (ALPS)
Ataxia-telangiectasia (AT)
Samples
From patients with Ataxia-T (ProB murine cells) (RNA)
In vitro models
From patients with Ataxia-T (ProB murine cells)
Protocols
V(D)J recombination analaysis for the identification of NHEJ inhibitors
Patient Cohorts
45 ImmuneRep: pediatric and adult (Ataxia-T)
Artemis deficiency
In vivo models
DCLRE1C KO mice
In vivo models
DCLRE1C transgenic mice
Samples
Fibroblasts SV40 – Artemis deficiency
In vitro models
Fibroblasts SV40 (Artemis deficiency)
In vitro models
From patients with Artemis deficiency (ProB murine cells)
Patient Cohorts
40 pediatric ImmuneRep (Artemis deficiency)
clinical trial
NCT05071222 – Safety and Efficacy Study of Transplantation of Autologous CD34+ Cells Transduced With the G2ARTE Lentiviral Vector Expressing the DCLRE1C cDNA in Artemis (DCLRE1C) Deficient Severe Combined Immunodeficiency Patients (ARTEGENE)
Hypogammaglobulinemia
Samples
From patients with PBMCs combined immunodeficiency with IRF4 mutation
Activated PI3K-delta syndrome (APDS)
Samples
CD3+ and CD34+ cells from patients with APDS1 deficiency
Patents
A specific trifluoroethyl quinoline analogue for use in the treatment of APDS
clinical trial
NCT05438407 – Pediatric Patients Aged 4 to 11 Years With APDS
Agammaglobulinemia
Activation-induced cytidine deaminase (AID) deficiency
Team
Primary immunodeficiency innate immunity
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Chronic granulomatous disease (CGD)
Mendelian susceptibility to mycobacterial diseases
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
X-linked chronic granulomatous disease (X-CGD)
Immunodeficiency due to a complement cascade protein anomaly
Interferonopathies
Filaggrin deficiency
Autoinflammatory syndrome with immune deficiency
Graft-versus host disease
Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Graft versus host disease (GVHD)