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Progetti di ricerca
BELGIO
OOST-VLAANDEREN
GENT
Unraveling pathophysiologic and genetic causes of primary immune deficiencies with a focus on antibody disorders (common variable immunodeficiency= CVID) and disorders of anti-fungal immunity (chronic mucocutaneous candidiasis = CMC)
PID research lab (PIRL), UZ Gent - MRBII - Entrance 38
Center for Primary Immunodeficiencies Ghent, Jeffrey Modell Foundation diagnostic and research center
FINLANDIA
Finland
HELSINKI
Genetics of primary immunodeficiency diseases
HUS - Helsinki University Hospital
FRANCIA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Nutrient transporters: a new tool for characterization of hematopoietic progenitors with optimal transplantation potential
Institution: Information not provided - FR
GERMANIA
Niedersachsen
HANNOVER
German Centre for Infection Research: Infections of the immunocompromised Host - Investigation of genetic susceptibility and identification of diagnostic biomarkers of infection control
Medizinische Hochschule Hannover
Abteilung für Virologie
REGNO UNITO; GRAN BRETAGNA
Cambridgeshire
CAMBRIDGE
NIHR BioResource - Rare Disease: PID - Primary Immune Disorders
Addenbrooke's Hospital
Department of Medicine - Renal services
SVEZIA
Region Stockholm
HUDDINGE
Genetic basis of immunodeficiency diseases
Karolinska Institutet - Huddinge
Department of laboratory medicine
SVIZZERA
Suisse Alémanique
SCHLIEREN
Pathophysiology of Inborn Immunodeficiencies
Institute for Regenerative Medicine
Department Gene and Cell Therapy
SVIZZERA
Suisse Alémanique
SCHLIEREN
Towards Identification of New Inborn Errors of Immunity by Whole Exome/Genome Sequencing
Institute for Regenerative Medicine
Department Gene and Cell Therapy
SVIZZERA
Suisse Alémanique
ZÜRICH
Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Immunologie
ITALIA
LAZIO
ROMA
Malattie rare causate dalla deregolazione funzionale delle proteine Rho GTPasi
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
FRANCIA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
FRANCIA
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
GERMANIA
Baden-Württemberg
FREIBURG
EuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge - DE (Partner No 2)
CCI am Universitätsklinikum Freiburg
Institut für Immundefizienz
GERMANIA
Baden-Württemberg
FREIBURG
EuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge - DE (Koordination)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
GERMANIA
Baden-Württemberg
ULM
EuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge - DE (Partner No 2)
DRK Baden-Württemberg/ Hessen
Abteilung Molekulare Diagnostik, Molekulare Therapie und Experimentelle Transplantation
GIAPPONE
JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University
GIAPPONE
JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University
GIAPPONE
JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute
ITALIA
LAZIO
ROMA
Studio della patogenesi dei fenomeni autoimmune nelle immunodeficienze primitive
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O. di Immunoinfettivologia Pediatrica
SPAGNA
Madrid
MADRID
Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz
Área de Genética y Genómica
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
AUSTRIA
WIEN
WIEN
i-PAD: Integrative Multi-Omics Analysis of Primary Antibody Deficiency (PAD) Patients for Stratification - AT
AKH BT 25.3
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases
FRANCIA
AUVERGNE-RHONE-ALPES
BRON
Genetic transmission of familial forms of sarcoidosis
CHU de Lyon HCL - GH Est
Unité Médicale de Génétique des Cancers et des Maladies Multifactorielles
FRANCIA
AUVERGNE-RHONE-ALPES
BRON
Genetic transmission of familial forms of sarcoidosis
CHU de Lyon HCL - GH Est-Hôpital Louis Pradel
Service de pneumologie
FRANCIA
ILE-DE-FRANCE
CLAMART
OSTEOVALYMPH: Autocrine/paracrine CXCL12/CXCR4-CXCR7 signaling within the bone marrow osteo-vascular niche: impact on lymphoid specification and commitment of hematopoietic stem cells - FR
Institut Paris-Saclay d'Innovation thérapeutique (IPSIT)
Unité "Inflammation, Chimiokines et Immunopathologie" - Inserm UMRS-996 / Université Paris-Sud
FRANCIA
ILE-DE-FRANCE
PARIS
FMFgeneToDiag : Familial Mediterranean Fever (FMF) and FMF-like diseases: From genetics to functional diagnostic tests - FR
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Physiopathologie Des Maladies Génétiques d'Expression Pédiatrique - Inserm UMRS_933
FRANCIA
ILE-DE-FRANCE
PARIS
Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Service d'hématologie pédiatrique
FRANCIA
ILE-DE-FRANCE
PARIS
NOVELPID: dissection génétique de l'encéphalite herpétique chez l'enfant (coordination)
IMAGINE - Institut des Maladies Génétiques
Equipe "Génétique humaine des maladies infectieuses - Génétique Mendélienne"
FRANCIA
ILE-DE-FRANCE
PARIS
GENMSMD: Human genetic dissection of Mendelian susceptibility to mycobacterial disease - FR
IMAGINE - Institut des Maladies Génétiques
Equipe "Génétique humaine des maladies infectieuses - Génétique Mendélienne"
FRANCIA
ILE-DE-FRANCE
PARIS
Innate immune deficiencies in severe brainstem infections
IMAGINE - Institut des Maladies Génétiques
Equipe "Génétique humaine des maladies infectieuses - Génétique Mendélienne"
FRANCIA
ILE-DE-FRANCE
PARIS
Hereditary humoral immune deficiencies: genetics and pathological mechanisms
IMAGINE - Institut des Maladies Génétiques
Génétique Humaine des Maladies Infectieuses
GERMANIA
Baden-Württemberg
FREIBURG
A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
GERMANIA
Baden-Württemberg
FREIBURG
Discovery and Evaluation of new Combined Immunodeficiency Disease Entities (DECIDE)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
GERMANIA
Baden-Württemberg
FREIBURG
Search for novel genetic defects underlying the hyper-IgE syndrome
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
GERMANIA
Baden-Württemberg
FREIBURG
The genetic cause of chronic mucocutaneous candidiasis (CMC)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
GERMANIA
Baden-Württemberg
FREIBURG
LRBA deficiency: clinical phenotype, biological pathomechanisms and murine model
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
GERMANIA
Baden-Württemberg
FREIBURG
Epigenetic analysis in patients with Primary Antibody Deficiencies
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
GERMANIA
Baden-Württemberg
FREIBURG
Human genetic defects impairing lymphocyte cytotoxicity: causes and consequences (SFB 1160: Immune-mediated pathology as a consequence of impaired immune reactions)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
GERMANIA
Baden-Württemberg
FREIBURG
GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
GERMANIA
Baden-Württemberg
FREIBURG
MyPred: Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie
GERMANIA
Baden-Württemberg
TÜBINGEN
MyPred: Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia
Department für Innere Medizin - Medizinische Universitätsklinik Tübingen
Innere Medizin II - Onkologie, Hämatologie, Klinische Immunologie, Rheumatologie und Pulmologie
GERMANIA
Niedersachsen
HANNOVER
MyPred: Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia
Medizinische Hochschule Hannover
Institut für Humangenetik
GERMANIA
Niedersachsen
HANNOVER
GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
Medizinische Hochschule Hannover
Klinik für Rheumatologie und Immunologie
GERMANIA
Nordrhein-Westfalen
AACHEN
Clinical research on the prevalence, diagnosis and clinical characteristics of cerebral herpes virus disease
Universitätsklinikum Aachen
Klinik für Kinder- und Jugendmedizin
GERMANIA
Nordrhein-Westfalen
DÜSSELDORF
MyPred: Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia
Universitätsklinikum Düsseldorf
Klinik für Kinder-Onkologie, -Hämatologie und klinische Immunologie
GERMANIA
Sachsen
DRESDEN
Perturbed type I interferon responses in pediatric autoinflammatory diseases with vascular inflammation (TRR 237: Nucleic Acid Immunity B18)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Klinik und Poliklinik für Kinder- und Jugendmedizin
GERMANIA
Sachsen
DRESDEN
Function of RNase Inhibitor 1 in the pathogenesis of systemic autoimmunity
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Klinik und Poliklinik für Kinder- und Jugendmedizin
GERMANIA
Sachsen
DRESDEN
TRR 237 - Nucleic Acid Immunity: Phenotypic and genetic dissection of type I interferonopathies (B21)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Klinik und Poliklinik für Kinder- und Jugendmedizin
GERMANIA
Sachsen-Anhalt
HALLE (SAALE)
MyPred: Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia
Universitätsklinikum Halle (Saale)
Universitätsklinik und Poliklinik für Pädiatrie I
GERMANIA
Schleswig-Holstein
KIEL
GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Innere Medizin I
GIAPPONE
JAPAN
ADDRESS : NOT PROVIDED - JP
Development research to solve inflammasome transmission abnormality of familial Mediterranean fever by genome drug discovery
Institution: Information not provided - JP
GIAPPONE
JAPAN
FUKUOKA
Unravelling the central nervous system inflammatory pathology and establishing the platform for drug development and presymptomatic diagnosis for Aicardi-Goutieres syndrome using disease-specific iPS cells and disease model mice.
Kurume University School of Medicine
Department of Pediatrics and Child Health
GIAPPONE
JAPAN
KYOTO
Discovery of novel therapeutic approach for Nakajo-Nishimura syndrome and Blau syndrome
Center for iPS Cell Research and Application, Kyoto University
Department of Clinical Application
GIAPPONE
JAPAN
KYOTO
Elucidation of the pathology of Adenosine Deaminase 2 (ADA2) deficiency and development oftherapeutic drugs
Kyoto University Graduate School of Medicine
ITALIA
LOMBARDIA
MILANO
Production of vectors for gene therapy (Wiskott-Aldrich Syndrome and Metachromatic Leukodystrophy)
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica
ITALIA
LOMBARDIA
MILANO
Sindrome di Wiskott-Aldrich: caratterizzazione dei difetti immunologici e studi preclinici di terapia genica
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unità di Ricerca Clinica
ITALIA
TOSCANA
SIENA
Il macchinario di trasporto implicato nelle ciliopatie: un nuovo protagonista nell'assemblaggio della sinapsi immunologica nei linfociti t e un bersaglio di malattia nell'immunodeficienza comune variabile
Università degli Studi di Siena
Dipartimento di Biologia Evolutiva
PAESI BASSI
Gelderland
NIJMEGEN
EURO-CMC: Novel treatment strategies for autosomal dominant chronic mucocutaneous candidiasis - NL
Radboudumc - Radboud universitair medisch centrum
Sectie Infectieziekten
REGNO UNITO; GRAN BRETAGNA
Devon
EXETER
The Fundamentals of Phagocytosis: Integrating Theoretical Models and Experiments
University of Exeter, Physics building
Department of Physics and Astronomy
REGNO UNITO; GRAN BRETAGNA
Greater London
LONDON
The genetic basis and pathophysiology of dyskeratosis congenita, aplastic anaemia, myelodysplasia and related disorders. Study of the genes DKC1, TERC, TERT, TIN2, NOP10, NHP2, C16orf57 and TCAB1 and new gene discovery
Barts and The London School of Medicine and Dentistry
Centre for Paediatrics
SPAGNA
Andalucía
SEVILLA
New insights on Aicardi-Goutieres Syndrome, a novel connection with DNA repair
CABIMER - Centro Andaluz de Biología Molecular y Medicina Regenerativa
Reparación de cortes de doble cadena en el DNA
SPAGNA
Andalucía
SEVILLA
Autophagy and inflammation: model in classic autoinflammatory syndromes and Behçet's disease
IBIS - Instituto de Biomedicina de Sevilla
Grupo de Inmunología
SPAGNA
Baleares
PALMA DE MALLORCA
Metabolism, mitochondrial homeostasis and autophagy in B lymphocytes from Common Variable Immunodeficiency (CVID) patients with NON-infectiuos complications
IdISBa - Fundació Institut d'Investigació Sanitaria Illes Balears
Grupo de investigación en Inflamación, reparación y cáncer en enfermedades respiratorias
SPAGNA
Cataluña
BADALONA
Integrative multi-omics analysis of primary antibody deficiency (PAD) patients for stratification according to cellular pathways
IJC - Instituto de Investigación contra la Leucemia Josep Carreras, Campus HGTiP
Grupo de Epigenética y enfermedades inmunitarias
SPAGNA
Cataluña
ESPLUGUES DE LLOBREGAT
Predictive and pathogenic factors of post-herpetic encephalitis autoimmune encephalopathies
Hospital Sant Joan de Déu Barcelona
Unidad de Neuroinmunología
SPAGNA
Comunidad Valenciana
VALENCIA
Comprehensive genomic characterization of hereditary myeloid syndromes
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en hematología y hemoterapia
SPAGNA
País Vasco
BARAKALDO
In vitro modeling of primary immunodeficiencies with defects in NK cells
Instituto de Investigación sanitaria Biocruces Bizkaia
Grupo de investigación en terapia celular, células madre y tejidos
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Therapeutics for rare and neglected diseases - science
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Gene therapy approaches for primary immunodeficiencies
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Genetics; pathophysiology; and treatment of recessive autoinflammatory diseases
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Molecular and clinical studies of primary immunodeficiencies
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Animal care: supporting research on pathogenesis and treatment of autoimmunity
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Applying bioinformatics to research in immune; muscle; and bone diseases
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Genetic disorders of immunodeficiency and inflammatory disease
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Genetics and pathophysiology of systemic juvenile idiopathic arthritis and other complex autoinflammatory diseases
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Pathogenesis and treatment of nomid; dira and other autoinflammatory diseases
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Tnf-receptors and programmed cell death in regulation of autoimmunity
Institution: Information not provided - US
SVEZIA
Region Stockholm
HUDDINGE
Unraveling the mechanisms for development of primary immunodeficiency using experimental models (Wiskott-Aldrich syndrome and X-linked severe congenital neutropenia)
Karolinska Institutet - Huddinge
Division of Clinical Chemistry
SVEZIA
Region Stockholm
HUDDINGE
The role of antimicrobial peptides (AMPs) in mucosal immunity
Karolinska Institutet - Huddinge
Department of Medicine
SVIZZERA
Suisse Italienne
BELLINZONA
Lymphocyte T helper (Th) cell differentiation in patients with inborn errors of immunity to Mycobacterium and/or Candida species
Istituto di Ricerca in Biomedicina
Immunologia Cellulare
SVIZZERA
Suisse Romande
LAUSANNE
Role of the Wiskott-Aldrich Syndrome Protein (WASp) in the Differentiation and Regulation of the Immune System
Centre Hospitalier Universitaire Vaudois CHUV
Service d'immunologie et allergie
SVIZZERA
Suisse Romande
LAUSANNE
Immunogenetics of Viral Infections - Focus on human herpes simplex virus I
Centre Hospitalier Universitaire Vaudois CHUV
Service des maladies infectieuses
CANADA
Ontario
TORONTO
Pathobiology and robosomal insufficiency in Shwachman-Diamond syndrome
Hospital for Sick Children, Research Institute
CANADA
Québec
MONTRÉAL
The genetic basis of atypical anomalies in contiguous gene syndrome: The case of 22q11.2
Montreal Children's Hospital Research Institute - McGill University
Department of Pediatrics / Département de pédiatrie
FINLANDIA
Finland
HELSINKI
Development og gene and cell therapy for APECED
HUS - Helsinki University Hospital
Skin and Allergy Hospital
FINLANDIA
Finland
HELSINKI
FinnDisMice- Mouse Models for Finnish Disease Heritage
University of Helsinki
FINLANDIA
Finland
HELSINKI
TARID - Thymic abnormalities in rare immunological diseases -FI
University of Helsinki
FRANCIA
AUVERGNE-RHONE-ALPES
GRENOBLE
USIDNET: modelization of X+CGD chronic granulomatous disease and Nox2 super oxidase mutants in the PLB-985 cell line to study the NADPH oxidase activation process
CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
Centre Diagnostic et Recherche sur la Granulomatose Septique Chronique
FRANCIA
AUVERGNE-RHONE-ALPES
LA TRONCHE
NOX NADPH oxydases in inflammatory response: physiopathological aspects, regulation mechanism and modeling
Université Grenoble Alpes (UGA) - Campus santé
GREPI : Groupe de Recherche et d'Etudes du Processus Inflammatoire
FRANCIA
AUVERGNE-RHONE-ALPES
LA TRONCHE
Validation of a new concept of cell therapy by transfer of proteins in enzymopathies: application to the Chronic septic granulomatosis
Université Grenoble Alpes (UGA) - Campus santé
GREPI : Groupe de Recherche et d'Etudes du Processus Inflammatoire
FRANCIA
AUVERGNE-RHONE-ALPES
PRAGUE
Pig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANCIA
ILE-DE-FRANCE
PARIS
Development of a new biotherapy targeting the inflammatory mechanisms of Netherton syndrome
IMAGINE - Institut des Maladies Génétiques
Equipe "Maladies génétiques cutanées: du mécanisme de la maladie aux thérapies"
GERMANIA
Baden-Württemberg
FREIBURG
KLKIN : Netherton Syndrome: From mechanisms to therapeutics - DE (partner no 3)
Albert-Ludwigs-Universität Freiburg
Institut für Molekulare Medizin und Zellforschung
GERMANIA
Baden-Württemberg
FREIBURG
A preclinical therapeutic gene editing protocol to restore cytotoxic T cell function in acute haemophagocytic lymphohistiocytosis (SFB 1160: Immune-mediated pathology as a consequence of impaired immune reactions)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
GERMANIA
Baden-Württemberg
HEIDELBERG
ADDRess: Translational research for patients with abnormal DNA Damage Response
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg
GERMANIA
Baden-Württemberg
HEIDELBERG
ADDRess: Translational research for patients with abnormal DNA Damage Response
Universitäts-Frauenklinik Heidelberg
Frauenheilkunde und Geburtshilfe
GERMANIA
Bayern
NEUHERBERG
Hyper-IgE syndromes: key to understand Staphylococcus aureus immune defense and associated allergy
Helmholtz Zentrum München
Institut für Umweltmedizin
GERMANIA
Bayern
WÜRZBURG
ADDRess: Translational research for patients with abnormal DNA Damage Response
Universität Würzburg - Biozentrum
Institut für Humangenetik
GERMANIA
Hessen
FRANKFURT AM MAIN
Phase IV Study: Status of the growth hormone/ insulin-like growth factor-1 axis in relation to growth failure, body weight and neuroprotection in children with Ataxia Telangiectasia
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Schwerpunkt Allergologie, Pneumologie und Mukoviszidose
GERMANIA
Niedersachsen
GÖTTINGEN
Elucidating the pathogenesis of Kabuki syndrome and a possible molecular genetic link between the two malformation syndromes CHARGE and Kabuki
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik
GERMANIA
Nordrhein-Westfalen
DÜSSELDORF
ADDRess: Translational research for patients with abnormal DNA Damage Response
Universitätsklinikum Düsseldorf
Institut für Pathologie
GIAPPONE
JAPAN
OSAKA
Research on development a novel high-accuracy gene editing method that can be appl ied as a therapy for rare genetic immunological disorders.
Osaka University Graduate School of Medicine
GIAPPONE
JAPAN
TOKUSHIMA
New treatment strategies for hyper-IgE syndrome based on the pathogenesis and pathophysiology of the syndrome.
Institute for Genome Research, Tokushima University
Division of molecular medicine
GIAPPONE
JAPAN
TOKYO
Study aiming at elucidation of the pathoiogy of multiple congenital anomaly syndrome by utilizing diseases- specific iPSCs and development of novel treatment methods
Keio University School of Medicine
GIAPPONE
JAPAN
TOKYO
Providing evidence for the integrated physical, psychological, and social support of adolescents and young adults (AYA) with intractable diseases by focusing on 22q11.2 deletion syndrome as the model
The University of Tokyo Hospital
Department of Neuropsychiatry
GIAPPONE
JAPAN
TOKYO
Development of RAS-related ALPS-like disease (RALD) therapy
Tokyo Medical and Dental University
Pediatrics and Developmental Biology
ITALIA
CAMPANIA
NAPOLI
Studio della regolazione epigenetica in cellule somatiche derivanti da pazienti affetti da Sindrome ICF (Immunodeficienza, Instabilità Centromerica, Anomalie Facciali)
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Ricombinazione e riparazione del DNA
ITALIA
LAZIO
ROMA
Effetto del fondatore nelle muatazioni del gene ATM in famiglie italiane affette da Atassia Teleangiectasia
A.O. S. Andrea
Servizio di Genetica Medica
ITALIA
LAZIO
ROMA
Studio delle genodermatosi: patogenesi molecolare, diagnosi e correlazione genotipo-fenotipo
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O.C. di Dermatologia
ITALIA
LAZIO
ROMA
Il ruolo di interferone gamma nella linfoistiocitosi emafagocitica associata a malattie reumatologica: un nuovo target terapeutico
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O. di Reumatologia
ITALIA
LAZIO
ROMA
Studio dell' associazione tra Sindrome di DiGeorge e sequenza displasia caudale in un neonato nato da madre diabetica
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica
ITALIA
LAZIO
ROMA
Pediatric ataxias and public health: epidemiological studies and disease registry, development of multi-level informatics platform for clinicians and family, and implementation of guidelines for diagnosis, management and care within the national health system
ISS - Istituto Superiore di Sanità
Centro Nazionale per la Prevenzione delle Malattie e la Promozione della Salute
ITALIA
LAZIO
ROMA
Sindrome di Netherton: dalla patogenesi allo sviluppo diagnostico e cura dei pazienti
Istituto Dermopatico dell'Immacolata - IRCCS
Laboratorio di Biologia Molecolare e Cellulare
ITALIA
LAZIO
ROMA
La Drosophila come organismo modello per lo studio della Nijmegen Breakage Syndrome e delle malattie ad essa correlate
Sapienza Università di Roma
Dipartimento di Genetica e Biologia Molecolare
ITALIA
LOMBARDIA
MILANO
Genetica e biologia della sindrome di Omenn
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unità di Ricerca Clinica
ITALIA
LOMBARDIA
MILANO
Patogenesi e terapia della malattia granulomatosa cronica mediante trasferimento genico in cellule staminali ematopoietiche
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unità di Ricerca Clinica
ITALIA
LOMBARDIA
MILANO
Sbilanciato rapporto tra eccitazione e inibizione nell'atassia telangectasia e prospettive d'intervento terapeutico
Università degli Studi di Milano-Biotecnologie Mediche e Medicina Traslazionale
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale - Laboratorio Interdisciplinare di Tecnologie Avanzate (LITA)
ITALIA
PIEMONTE
NOVARA
L'inibizione di DGK-alfa accende un nuovo interruttore che determina il destino cellulare dei linfociti T attivati: implicazioni per la terapia di XLP1
Università degli Studi del Piemonte Orientale
Centro Interdisciplinare di Ricerca sulle Malattie Autoimmuni
ITALIA
PIEMONTE
NOVARA
L'inibizione di DGK-alfa accende un nuovo interruttore che determina il destino cellulare dei linfociti T attivati: implicazioni per la terapia di XLP1
Università degli Studi del Piemonte Orientale
Dipartimento di Scienze Mediche
REGNO UNITO; GRAN BRETAGNA
Cambridgeshire
CAMBRIDGE
Autoimmunity in AIRE deficient mice, a model of autoimmune polyendocrine syndrome type I
University of Cambridge
Department of Medicine
REGNO UNITO; GRAN BRETAGNA
Greater London
LONDON
The genetic causes of Nephrotic syndrome
Evelina London Children's Hospital
Paediatric Nephrology
SPAGNA
Baleares
PALMA DE MALLORCA
Identification of the signaling pathways that allow the correction of congenital heart disease "in utero" in a natural way. Bases for prenatal therapy
Hospital Universitario Son Espases
Unidad de Diagnostico Molecular y Genética Clinica
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Systematic whole genome analyses of the cardiopharyngeal gene regulatory network in a simple chordate.
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Cell biology of metabolic disorders
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Genetic; cellular and molecular mechanisms in autoimmunity to retina
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Clinical research of oral connective tissue program
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Cytokine signaling and primary immunodeficiency
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Programmed cell death in regulation of autoimmunity
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Targeting jak3 in the treatment of autoimmune disease
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Genes for non-syndromic congenital heart disease
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Genetic modifiers of congenital heart disease
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Mouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Project: genetic basis of intellectual disability in 22q11.2 deletion syndrome
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Project 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US
SVEZIA
Region Stockholm
STOCKHOLM
The Histiocytosis: clinical and immunological studies
Astrid Lindgren Children's Hospital - Karolinska
Paediatric Oncology
SVEZIA
Region Stockholm
STOCKHOLM
Programmed cell clearance: molecular mechanisms and role in pathogenesis and treatment of chronic inflammation
Karolinska Institutet - Solna
The Institute of Environmental Medicine
SVIZZERA
Suisse Alémanique
SCHLIEREN
Hematopoietic Stem Cell Gene Therapy for treatment of Ataxia telangiectasia (A-T)
Institute for Regenerative Medicine
Department Gene and Cell Therapy
FRANCIA
BOURGOGNE-FRANCHE-COMTE
DIJON
Molecular diagnosis of poikiloderma with neutropenia (C16ORF57 gene sequencing)
CHU de Dijon - Plateau technique de Biologie
Laboratoire de génétique chromosomique et moléculaire
FRANCIA
ILE-DE-FRANCE
PARIS
ADOPTIVE TRANSFER OF GENE EDITED LYMPHOID PROGENITORS FROM PATIENT SPECIFIC HUMAN INDUCED PLURIPOTENT STEM CELLS AS A TREATMENT OF X-LINKED SEVERE COMBINED IMMUNODEFICIENCY
IMAGINE - Institut des Maladies Génétiques
Laboratoire de Lympho-Hématopoïèse Humaine
GERMANIA
Nordrhein-Westfalen
MÜNSTER
CDG syndromes: Identification and characterisation of human glycosylation defects
Max-Planck-Gesellschaft
Vascular Glycoimmunology Laboratory
GERMANIA
Nordrhein-Westfalen
MÜNSTER
Molecular mechanism of leukocyte migration in Leukocyte adhesion deficiendy type II
Max-Planck-Gesellschaft
Vascular Glycoimmunology Laboratory
GIAPPONE
JAPAN
TOKYO
T cell gene therapy for X-linked hyper IgM syndrome using a modified Cas9-mediated targeted genome editing.
National Center for Child Health and Development
Department of Human Genetics
ITALIA
CAMPANIA
NAPOLI
Caratterizzazione della predisposizione genetica ad un aumentato rischio di sviluppare malattie autoimmunitarie in soggetti con glicogenosi di tipo 1b
AOU Università degli Studi della Campania "Luigi Vanvitelli"- Cappella Cangiani
Dipartimento di Medicina molecolare e Biotecnologie Mediche
ITALIA
LOMBARDIA
MILANO
Patogenesi e terapia genica dell'immunodeficienza da carenza di adenosin-deaminasi (ADA-SCID)
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unità di Ricerca Clinica
PAESI BASSI
Zuid-Holland
LEIDEN
Gene-corrected stem cells for curative treatment of SCID
LUMC - Leids Universitair Medisch Centrum
Afdeling Immunohematologie en Bloedtransfusie
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Molecular genetics of heritable human disorders
Institution: Information not provided - US
SVEZIA
Region Stockholm
HUDDINGE
Gene and cell therapy for X-linked agammaglobulinemia
Karolinska Institutet - Huddinge
Department of laboratory medicine
Progetti di ricerca multicentrici
- CCI am Universitätsklinikum Freiburg
- Centrum für Chronische Immundefizienz
- Lund University
- Department of Experimental Medical Science
- Istituto San Raffaele Telethon per la Terapia Genica - TIGET
- Istituto San Raffaele Telethon per la Terapia Genica
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- CCI am Universitätsklinikum Freiburg
- Centrum für Chronische Immundefizienz
- Institut Paris-Saclay d'Innovation thérapeutique (IPSIT)
- Unité "Inflammation, Chimiokines et Immunopathologie" - Inserm UMRS-996 / Université Paris-Sud
- Institut Paris-Saclay d'Innovation thérapeutique (IPSIT)
- Unité "Inflammation, Chimiokines et Immunopathologie" - Inserm UMRS-996 / Université Paris-Sud
- CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
- Physiopathologie Des Maladies Génétiques d'Expression Pédiatrique - Inserm UMRS_933
- IMAGINE - Institut des Maladies Génétiques
- Equipe "Génétique humaine des maladies infectieuses - Génétique Mendélienne"
- IMAGINE - Institut des Maladies Génétiques
- Equipe "Génétique humaine des maladies infectieuses - Génétique Mendélienne"
- CHU de Montpellier - Hôpital Arnaud de Villeneuve
- Laboratoire de génétique des maladies rares et autoinflammatoires
- Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
- Care-for-Rare Center (CRCHauner)
- Robert Koch-Institut
- Zentrum für Biologische Sicherheit
- Istituto San Raffaele Telethon per la Terapia Genica - TIGET
- Unità di Ricerca Clinica
- Radboudumc - Radboud universitair medisch centrum
- Sectie Infectieziekten
- Great Ormond Street Hospital
- Molecular and Cellular Immunology Unit
- St Mary's Hospital
- Manchester Cente for Genomic Medicine
- Institution: Information not provided - ES
- Centre Hospitalier Universitaire Vaudois CHUV
- Service de recherche en oncologie
- Université de Liège
- Centre d'Immunologie de Liège
- CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
- Centre d'étude des Glycopathies
- CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
- Service d'Immuno-Hématologie
- Hôpital Necker-Enfants Malades
- Service de Génétique Moléculaire
- Hôpital Necker-Enfants Malades
- Service de dermatologie
- Universitätsklinik für Kinder- und Jugendmedizin Tübingen
- Abteilung für allgemeine Pädiatrie, Hämatologie/Onkologie
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Istituto San Raffaele Telethon per la Terapia Genica - TIGET
- Unità di Ricerca Clinica
- Haukeland University Hospital
- Department of Health
- Akademiska Sjukhuset
- Department of Medical Sciences
- Institution : Information not provided - FI
GERMANIA
Baden-Württemberg
FREIBURG
EURO-PADNET: the pathophysiology and natural course of patients with Primary Antibody Deficiencies
SVEZIA
Region Skåne
LUND
IDR: ImmunoDeficiency Resource
ITALIA
LOMBARDIA
MILANO
PERSIST: Persisting transgenesis (TERMINATED)
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCIA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCIA
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
GERMANIA
Baden-Württemberg
FREIBURG
EuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge
FRANCIA
ILE-DE-FRANCE
CLAMART
WHIM-Thernet: WHIM syndrome: Pathological basis and development of therapeutic molecules
FRANCIA
ILE-DE-FRANCE
CLAMART
OSTEOVALYMPH: Autocrine/paracrine CXCL12/CXCR4-CXCR7 signaling within the bone marrow osteo-vascular niche: impact on lymphoid specification and commitment of hematopoietic stem cells
FRANCIA
ILE-DE-FRANCE
PARIS
FMFgeneToDiag : Familial Mediterranean Fever (FMF) and FMF-like diseases: From genetics to functional diagnostic tests
FRANCIA
ILE-DE-FRANCE
PARIS
NOVELPID: genetic dissection of herpes simplex encephalitis (HSE) in children
FRANCIA
ILE-DE-FRANCE
PARIS
GENMSMD: Human genetic dissection of Mendelian susceptibility to mycobacterial disease
FRANCIA
OCCITANIE
MONTPELLIER
EUROTRAPS: natural course, pathophysiology, models for early diagnosis, prevention and innovative treatment of TNF Receptor Associated Periodic Syndrome (TRAPS) with application for all hereditary recurrent fevers (Terminated)
GERMANIA
Bayern
MÜNCHEN
NEUTRO-NET: inherited inhibition of inborn immunity: an integrated molecular genetic approach to discover novel human gene defects -terminated
GERMANIA
Berlin
BERLIN
ENIVD: European Network for Diagnostics of 'Imported' Viral Diseases
ITALIA
LOMBARDIA
MILANO
CELL-PID: advanced cell-based therapies for the treatment of primary immunodeficiency
PAESI BASSI
Gelderland
NIJMEGEN
EURO-CMC: Novel treatment strategies for autosomal dominant chronic mucocutaneous candidiasis
REGNO UNITO; GRAN BRETAGNA
Greater London
LONDON
WASHSCGENETHERAPY: Preclinical studies in mouse hematopoietic stem cells for gene therapy of Wiskott-Aldrich Syndrome
REGNO UNITO; GRAN BRETAGNA
Greater Manchester
MANCHESTER
NIMBL: Nuclease Immune Mediated Brain and Lupus-like conditions (NIMBL): natural history, pathophysiology, diagnostic and therapeutic modalities with application to other disorders of autoimmunity (TERMINATED)
SPAGNA
Madrid
ADDRESS: NOT PROVIDED - ES
i-PAD: Integrative Multi-Omics Analysis of Primary Antibody Deficiency (PAD) Patients for Stratification
SVIZZERA
Suisse Romande
LAUSANNE
TheraLymph: Therapeutic approaches for treatment of hereditary lymphedema
BELGIO
LIEGE
LIEGE
EUROTHYMAIDE: understanding the mechanisms underlying the development of autoimmune diseases, by exploring the major biological functions of the thymus
FRANCIA
ILE-DE-FRANCE
PARIS
Research network on CDG syndrome (FINISHED)
FRANCIA
ILE-DE-FRANCE
PARIS
Réseau national d'étude des déficits immunitaires primitifs avec hypogammaglobulinémie de l'adulte
FRANCIA
ILE-DE-FRANCE
PARIS
Réseau sur le syndrome de Netherton et les ichtyoses lamellaires
FRANCIA
ILE-DE-FRANCE
PARIS
KLKIN : Netherton Syndrome: From mechanisms to therapeutics
GERMANIA
Baden-Württemberg
TÜBINGEN
ELA2-CN: congenital neutropenia with ELA-2 mutations (ELA2-CN), identification of (epi)genetic co-factors and molecular pathways underlying clinical heterogeneity
ITALIA
CAMPANIA
NAPOLI
22q11.2 deletion syndrome: Novel approaches to understand cardiopharyngeal pathogenesis
ITALIA
LOMBARDIA
MILANO
EURO-CGD: genetics and pathogenesis of chronic granulomatous disease and development of new gene transfer therapeutic approaches
NORVEGIA
Vestlandet
BERGEN
EURADRENAL: pathophysiology and natural course of autoimmune adrenal failure in Europe (research)
REGNO UNITO; GRAN BRETAGNA
Greater London
LONDON
RASopathy network: disorders of the Ras-MAPK pathway
SVEZIA
Region Uppsala
UPPSALA
EURAPS: autoimmune polyendocrine syndrome type I - a rare disorder of childhood as a model for autoimmunity (TERMINATED)
FINLANDIA
Finland
ADDRESS : NOT PROVIDED - FI