Suche Register/Biobank
Weitere Suchoptionen
216 Ergebnis(se)
Förderung durch ein IRDiRC-Mitglied = 
ERN-Mitglied = 
Register und Biobanken
BELGIEN
OOST-VLAANDEREN
GENT
A biobank of patients with Primary Immune Deficiencies (PID)
PID research lab (PIRL), UZ Gent - MRBII - Entrance 38
Center for Primary Immunodeficiencies Ghent, Jeffrey Modell Foundation diagnostic and research center
BELGIEN
VLAAMS BRABANT
LEUVEN
Belgian registry of primary immunodeficiencies - contributes to the ESID European registry
UZ Leuven - Campus Gasthuisberg
Laboratory of Pediatric Immunology
BULGARIEN
South-West region
SOFIA
National registry of patients with primary immunodeficiencies (PID) - BG
Alexandrovska University Hospital
DEUTSCHLAND
Baden-Württemberg
FREIBURG
PID-NET: Deutsches Nationales Patientenregister für primäre Immundefekte - Partner des ESID-Registers
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
DEUTSCHLAND
Baden-Württemberg
FREIBURG
ESID: Europäisches Patientenregister für primäre Immundefekte
Universitätsklinikum Freiburg
ESID Online Datenbank
DEUTSCHLAND
Baden-Württemberg
FREIBURG
PID-NET: Deutsches Nationales Patientenregister für primäre Immundefekte - Partner des ESID-Registers
Universitätsklinikum Freiburg
ESID Online Datenbank
DEUTSCHLAND
Bayern
MÜNCHEN
PID-NET: Dezentrale nationale Biobank für primäre Immundefekt-Syndrome
Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
Care-for-Rare Center (CRCHauner)
FRANKREICH
ILE-DE-FRANCE
PARIS
CEREDIH: French primary immunodeficiencies registry
Hôpital Necker-Enfants Malades
Registre français des déficits immunitaires héréditaires
FRANKREICH
ILE-DE-FRANCE
PARIS
SCETIDE - Stem CEll Transplant for primary Immune Deficiencies in Europe
Hôpital Necker-Enfants Malades
Registre européen des greffes de moelle osseuse pour immunodéficience primaire
IRLAND
County Dublin
DUBLIN
National Severe Immunodeficiency Registry - contributes to ESID registry
St James's Hospital
Department of Immunology
ITALIEN
LIGURIA
GENOVA
ERN [RITA] - MERITA: A METADATA REGISTRY FOR THE ERN RITA
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
U.O. Pediatria II
POLEN
Warszawa
WARSAW
Polish registry of primary immunodeficiencies - contributes to the ESID European registry
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Klinika Immunologii
PORTUGAL
NORTE
PORTO
Portuguese registry of primary immunodeficiency diseases (REPORID)
Centro Hospitalar Universitário do Porto - Hospital Santo António
Centro Coordenador do REPORID
SPANIEN
Baleares
PALMA DE MALLORCA
REDIP: Spanish registry of primary immunodeficiencies - contributes to the ESID European registry
Hospital Universitario Son Espases
Servicio de Inmunología
BELGIEN
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Central Registry of Rare Diseases (CRRD)
Sciensano
Health Services Research - Rare Diseases
FRANKREICH
ILE-DE-FRANCE
PARIS
French National Registry for Rare Diseases (BNDMR)
AP-HP Campus Picpus - Département WIND (Web Innovation Données)
Banque Nationale de Données Maladies Rares (BNDMR)
SCHWEIZ
Suisse Alémanique
BERN
Schweizer Register für seltene Krankheiten
Institute of Social and Preventive Medicine (ISPM)
SCHWEIZ
Suisse Alémanique
ZÜRICH
Schweizer Register für seltene Krankheiten
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten
SPANIEN
Andalucía
SEVILLA
Registry for rare diseases in Andalusia (Spain)
Junta de Andalucía. Consejería de Salud y Bienestar Social
Dirección General de Calidad, Investigación y Gestión del Conocimiento
SPANIEN
Aragón
ZARAGOZA
Rare disease registry of Aragon (Spain)
Gobierno de Aragón. Departamento de Sanidad, Bienestar Social y Familia
Servicio de Evaluación y Acreditación Sanitaria
SPANIEN
Baleares
PALMA DE MALLORCA
Population registry of rare diseases of Balearic Islands (Spain)
Govern de les Illes Balears. Dirección General de Salud Pública y Consumo
Servicio de Epidemiología
SPANIEN
Baleares
PALMA DE MALLORCA
Population registry of rare diseases of Balearic Islands (Spain)
Govern de les Illes Balears. Dirección General de Salud Pública y Consumo
Dirección General de Salud Pública y Consumo
SPANIEN
Cantabria
SANTANDER
Population registry of rare diseases and congenital anomalies of Cantabria (Spain)
Gobierno de Cantabria. Consejería de Sanidad y Servicios Sociales
Servicio de Atención Sanitaria
SPANIEN
Comunidad Valenciana
VALENCIA
SIER-CV: Information System on rare diseases in Valencian Community (Spain)
FISABIO - Salud Pública
Área de Enfermedades Raras
SPANIEN
Extremadura
MÉRIDA
Registry for rare diseases in Extremadura (Spain)
Junta de Extremadura. Servicio Extremeño de Salud
Subdirector de Epidemiología
SPANIEN
Galicia
SANTIAGO DE COMPOSTELA
RERGA: Registry for rare diseases in Galicia (Spain)
Servicio Gallego de Salud
Servicio de Análisis y Evaluación Asistencial
SPANIEN
Madrid
MADRID
SIERMA: Information system on rare diseases in Madrid (Spain)
Comunidad de Madrid. Subdirección de Promoción y Prevención de la Salud
Subdirección de Promoción y Prevención de la Salud
SPANIEN
Madrid
MADRID
ReeR: Spanish National Registry of Rare Diseases
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras
SPANIEN
Murcia
MURCIA
SIERrm: Information System on rare diseases in the Region of Murcia (Spain)
Región de Murcia. Consejería de Sanidad y Política Social
Servicio de Planificación y Financiación Sanitaria
SPANIEN
Navarra
PAMPLONA
Population registry of rare diseases of Navarra (Spain)
Instituto de Salud Pública y Laboral de Navarra
Sección de Epidemiología de Enfermedades No Transmisibles
DANEMARK
Sjælland
COPENHAGEN
Mendelian cytogenetics network online database
The Panum Institute-University of Copenhagen
Department of Cellular and Molecular Medicine
ESTLAND
Tartu
TARTU
Biobank of the Estonian Genome Centre
Institute of Genomics of University of Tartu
The Estonian Genome Centre
ITALIEN
LIGURIA
GENOVA
Cell line and DNA Biobank from patients affected by genetic diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche
ITALIEN
LIGURIA
GENOVA
Telethon Network of Genetic Biobanks
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche
MAROKKO
Rabat
RABAT
Moroccan National Genetic Database
Institut National d'Hygiène
Département de génétique médicale
NORWEGEN
Østlandet
OSLO
Norwegian registry on rare disorders
Oslo University Hospital, Ullevaal
Norsk register for sjeldne diagnoser
OSTERREICH
TIROL
INNSBRUCK
Austrian Country Node of the Human Variome Project (HVP)
Medizinische Universität Innsbruck
Zentrum Medizinische Genetik Innsbruck
REPUBLIK KOREA
KOREA, REPUBLIC OF
SEOUL
Korean Mutation Database for Rare Diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory
SPANIEN
Comunidad Valenciana
VALENCIA
CIBERER Biobank (Biobank of rare diseases)
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en biomedicina molecular, celular y genómica
SPANIEN
Comunidad Valenciana
VALENCIA
CIBERER Biobank (Biobank of rare diseases)
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en fisiopatología celular y orgánica del estrés oxidativo
SPANIEN
Madrid
MADRID
BioNER: Biobank of the Institute of Rare Diseases Research/Institute of Health Carlos III
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras
SPANIEN
País Vasco
BARAKALDO
Basque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco
BELGIEN
VLAAMS BRABANT
LEUVEN
Pediatric granulomatous arthritis international registry
UZ Leuven - Campus Gasthuisberg
Pediatric Rheumatology
BELGIEN
VLAAMS BRABANT
LEUVEN
Biobank of the pediatric granulomatous arthritis international registry
UZ Leuven - Campus Gasthuisberg
Pediatric Rheumatology
DEUTSCHLAND
Baden-Württemberg
FREIBURG
GAIN-Register: Patientenregister des Deutschen Netzwerks für die Erforschung und Therapieoptimierung von Patienten mit Multi-Organ-Autoimmunerkrankungen
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
DEUTSCHLAND
Baden-Württemberg
FREIBURG
GAIN-Biobank: Biobank des Deutschen Netzwerks für die Erforschung und Therapieoptimierung von Patienten mit Multi-Organ-Autoimmunerkrankungen
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
DEUTSCHLAND
Baden-Württemberg
FREIBURG
GAIN-Register: Patientenregister des Deutschen Netzwerks für die Erforschung und Therapieoptimierung von Patienten mit Multi-Organ-Autoimmunerkrankungen
Universitätsklinikum Freiburg
ESID Online Datenbank
DEUTSCHLAND
Baden-Württemberg
TÜBINGEN
Neutropenia biobank - contributes to the SCN international registry (SCNIR)
Universitätsklinik für Kinder- und Jugendmedizin Tübingen
Abteilung für allgemeine Pädiatrie, Hämatologie/Onkologie
DEUTSCHLAND
Bayern
MÜNCHEN
MD-NET: Muskelbank (Muscle Tissue Culture Collection) - Partner der EuroBioBank
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
DEUTSCHLAND
Niedersachsen
HANNOVER
GAIN-Biobank: Biobank des Deutschen Netzwerks für die Erforschung und Therapieoptimierung von Patienten mit Multi-Organ-Autoimmunerkrankungen
CRC Hannover
Hannover Unified Biobank (HUB)
DEUTSCHLAND
Niedersachsen
HANNOVER
German severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Medizinische Hochschule Hannover
SCNIR - Europazentrale
FRANKREICH
AUVERGNE-RHONE-ALPES
PIERRE-BENITE
French cohort of common variable immunodeficiency with hypogammaglobulinemia in adults (CVID)
CHU de Lyon HCL - GH Sud
Service de médecine interne et pathologie vasculaire
FRANKREICH
ILE-DE-FRANCE
PARIS
French cohort of common variable immunodeficiency with hypogammaglobulinemia in adults (CVID)
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Service d'Immuno-Hématologie
FRANKREICH
ILE-DE-FRANCE
PARIS
BLAU registry: French pediatric granulomatous arthritis registry
Hôpital Necker-Enfants Malades
Service d'Immuno-hématologie pédiatrique - Rhumatologie
ITALIEN
LAZIO
ROMA
FMF: Italian registry for familial mediterranean fever in the young
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Sezione Pediatrica
ITALIEN
LAZIO
ROMA
Italian Registry of adult patients affected by familial mediterranean fever
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Centro delle Febbri Periodiche - Istituto di Medicina Interna
ITALIEN
LIGURIA
GENOVA
Galliera Genetic Bank
Ospedali Galliera
Dipartimento di Scienze genetiche, Perinatali e Ginecologiche
NIEDERLANDE
Utrecht
NIEUWEGEIN
Biobank of Interstitial Lung Diseases (DNA/serum/plasma/BAL fluid)
St. Antonius Ziekenhuis, locatie Nieuwegein
Longcentrum
OSTERREICH
STEIERMARK
GRAZ
Hautkrebssyndrom-Register Graz
Medizinische Universität Graz
Universitätsklinik für Dermatologie und Venerologie
SCHWEDEN
Region Skåne
LUND
CD19base: Mutation registry for CD19 deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
CXCR4base: Mutation registry for WHIM syndrome (warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome and dyskeratosis congenita
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
FOXN1base: Mutation registry for T-cell immunodeficiency, congenital alopecia, and nail dystrophy (Previously known as WHNbase)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
ICOSbase: Mutation registry for ICOS deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
IFNGR1base: Mutation registry for IFN gamma 1-receptor deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
IFNGR2base: Mutation registry for IFN gamma 2-receptor deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
IKBKGbase: Mutation registry for Nemo deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
IL12Bbase: Mutation registry for Interleukin-12 (IL-12) p40 deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
IL12RB1base: Mutation registry for Interleukin-12 receptor á1 deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
IRAK4base: Mutation registry for IRAK4 deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
NFKBIAbase: Mutation registry for Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
RAG1base: Mutation registry for autosomal recessive RAG1 deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
RAG2base: Mutation registry for autosomal recessive RAG2 deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
SP110base: Mutation registry for Hepatic veno-occlusive disease with immunodeficiency syndrome (VODI)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
STAT1base: Mutation registry for STAT1 deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
STAT5Bbase: Mutation registry for Growth hormone insensitivity with immunodeficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
TCN2base: Mutation registry for Transcobalamin II deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
TMC6base: Mutation registry for Epidermodysplasia verruciformis (previously known as EVER1base)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
TMC8base: Mutation registry for Epidermodysplasia verruciformis (previously known as EVER2base)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
TNFRSF13Bbase: Mutation registry for TACI deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
WASbase: Mutation registry for Wiskott-Aldrich syndrome (WAS)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
ORAI1base: Mutation registry for Severe combined immunodeficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
TLR3base: Mutation registry for Influenza-associated encephalopathy
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
UNC93B1base: Mutation registry for UNC93B deficiency (Herpes simplex encephalitis)
Lund University
Department of Experimental Medical Science
SPANIEN
Galicia
LUGO
REPA: Spanish registry of alveolar proteinosis
Hospital Universitario Lucus Augusti
Servicio de Neumología
BELGIEN
OOST-VLAANDEREN
GENT
Belgian severe chronic neutropenia patient registry - contributes to the Severe Chronic Neutropenia International Registry (SCNIR)
Kinderziekenhuis Prinses Elisabeth- UZ Gent
Pediatric Hematology-Oncology and Stem Cell Transplantation/Afdeling Hemato-oncologie en stamceltransplantatie kinderen
DEUTSCHLAND
Hessen
FRANKFURT AM MAIN
AT-Patientenregister (eingebunden in die ESID-Datenbank)
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Schwerpunkt Allergologie, Pneumologie und Mukoviszidose
DEUTSCHLAND
Hessen
GIEßEN
Mutationsdatenbank Retina International: LYST-Gen
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde
DEUTSCHLAND
Hessen
MARBURG
Nationalen Fallsammlung Familiäres Pankreaskarzinom
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Klinik für Visceral- Thorax- und Gefäßchirurgie
DEUTSCHLAND
Niedersachsen
HANNOVER
SCNIR - Neutropenie Zellbank
Medizinische Hochschule Hannover
SCNIR - Europazentrale
FRANKREICH
ILE-DE-FRANCE
PARIS
French severe chronic neutropenia certified patient registry - contributes to the SCN international registry (SCNIR)
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Service d'Hématologie - Oncologie pédiatrique
FRANKREICH
ILE-DE-FRANCE
PARIS
CoF-AT study: a French cohort on ataxia-telangiectasia
CLCC Institut Curie
Cancer et génome: bioinformatique, biostatistiques et épidémiologie d'un système complexe
FRANKREICH
ILE-DE-FRANCE
PARIS
CoF-AT study: a French cohort on ataxia-telangiectasia
CLCC Institut Curie
Service de Génétique
GRIECHENLAND
ATTIKI
ATHENS
Greek severe chronic neutropenia patient registry - contributes to the SCN international registry (SCNIR)
"Aghia Sophia" Children's Hospital
First department of paediatrics
IRLAND
County Dublin
DUBLIN
Irish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Children's Health Ireland @ Temple Street
Department of Haematology
ISRAEL
ISRAEL
PETAH TIKVA
Israelian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Schneider Children's Medical Center of Israel
Pediatric Hematology Unit
ITALIEN
LAZIO
ROMA
RIAT: Ataxia teleangiectasia Italian registry
A.O. S. Andrea
Servizio di Genetica Medica
ITALIEN
LAZIO
ROMA
V-RIAT: variant Ataxia telangiectasia Italian registry
A.O. S. Andrea
Servizio di Genetica Medica
ITALIEN
PUGLIA
SAN GIOVANNI ROTONDO
Genetic Biobank from patients with Williams-Beuren syndrome and other genomic disorders
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
U.O.C. Genetica Medica
ITALIEN
TOSCANA
FIRENZE
SCNIR: Italian severe chronic neutropenia registry - contributes to the SCN international registry
Azienda Ospedaliera Universitaria Anna Meyer
D.A.I. Oncoematologia
ITALIEN
VENETO
VERONA
Italian Registry for patients with Shwachman Diamond Syndrome
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Trento
Centro Fibrosi Cistica
NIEDERLANDE
Gelderland
NIJMEGEN
ERN [GENTURIS] - GENTURIS registry: The ERN Genetic Tumour Risk Syndromes Registry
Radboudumc - Radboud universitair medisch centrum
Sectie Klinische Genetica
NIEDERLANDE
Utrecht
UTRECHT
Dutch severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Polikliniek Hematologie
NORWEGEN
Østlandet
OSLO
Norwegian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Oslo Universitetssykehus HF, Rikshospitalet
Barneklinikken
OSTERREICH
OBERÖSTERREICH
LINZ
Austrian severe chronic neutropenia patient registry - contributes to the SCN international registry (SCNIR)
Kepler Universitätsklinikum - Med Campus IV.
Zentrum für Medizinische Genetik
OSTERREICH
OBERÖSTERREICH
LINZ
Non-Interventional, web-based Registry for Histiocytic Disorders
Ordensklinikum Linz GmbH Elisabethinen
Interne 1 - Hämatologie mit Stammzelltransplantation, Hämostaseologie und medizinische Onkologie
POLEN
Wroclaw
WROCLAW
Polish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Ponadregionalne Centrum Onkologii Dzieciecej PRZYLADEK NADZIEI
Klinika Transplantacji Szpiku, Onkologii i Hematologii Dzieciecej
PORTUGAL
CENTRO
COIMBRA
Portuguese severe chronic neutropenia patient registry - contributes to the SCN international registry (SCNIR)
Hospitais da Universidade de Coimbra
Laboratório de hematologia
SCHWEDEN
Region Skåne
LUND
AIREbase: Mutation registry for Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
BLMbase: Mutation registry for Bloom Syndrome
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
C2base: Mutation registry for C2 deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
C5base: Mutation registry for C5 deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
C6base: Mutation registry for C6 deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
C7base: Mutation registry for C7 deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
C8Bbase: Mutation registry for C8B deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
C9base: Mutation registry for C9 deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
CASP10base: Mutation registry for Autoimmune lymphoproliferative syndrome, type II (ALPS2)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
CASP8base: Mutation registry for Caspase 8 deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
CD3Gbase: Mutation registry for autosomal recessive CD3gamma immunodeficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
CEBPEbase: Mutation registry for Neutrophil-specific granule deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
CFHbase: Mutation registry for Factor H deficiency (previously known as HF1base)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
CFIbase: Mutation registry for Factor I deficiency (previously known as IFbase)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
CIITAbase: Mutation registry for MHCII transactivating protein deficiency (previously known as MHC2TAbase)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
CTSCbase: Mutation registry for Papillon-Lefevre syndrome
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
CYBAbase: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p22phox
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
CYBBbase: Mutation registry for X-linked chronic granulomatous disease (previously known as X-CDGbase)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
DNMT3Bbase: Mutation registry for ICF syndrome
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
ELA2base: Mutation registry for Cyclic and congenital neutropenia
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
FASLGbase: Mutation registry for Autoimmune lymphoproliferative syndrome, type 1B (ALPS1B) (previously known as TNFSF6base)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
'FOXP3base: Mutation registry for Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX'
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
IL2RAbase: Mutation registry for Interleuken 2 receptor alpha deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
LIG4base: Mutation registry for LIG4 syndrome
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
LYSTbase: Mutation registry for Chediak-Higashi syndrome (previously known as CHS1base)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
MPObase: Mutation registry for Myeloperoxidase deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
MRE11Abase: Mutation registry for Ataxia-telangiectasia-like disorder (ATLD)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
NCF1base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p47phox
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
NCF2base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p67phox
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
NHEJ1base: Mutation registry for Combined immunodeficiency (CID) associated with microcephaly and increased cellular sensitivity to IR
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
NPbase: Mutation registry for PNP deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
PRF1base: Mutation registry for Familiar haemophagocytic lymphohistiocytosis, type II (FHL2)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
RAC2base: Mutation registry for Neutrophil immunodeficiency syndrome
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
RFX5base: Mutation registry for MHCII promoter X box regulatory factor 5 deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
RFXANKbase: Mutation registry for Ankyrin repeat containing regulatory factor X-associated protein deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
RFXAPbase: Mutation registry for Regulatory factor X-associated protein deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
SBDSbase: Mutation registry for Shwachman-Diamond syndrome
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
SH2D1Abase: Mutation registry for X-linked lymphoproliferative syndrome (XLP)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
SMARCAL1base: Mutation registry for Schimke immuno-osseous dysplasia
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
SPINK5base: Mutation registry for Netherton syndrome
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
STX11base: Mutation registry for Familial haemophagocytic lymphohistiocytosis 4 (FHL4)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
TAP1base: Mutation registry for TAP1 deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
TAP2base: Mutation registry for TAP2 deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
TAPBPbase: Mutation registry for Tapasin deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
UNC13Dbase: Mutation registry for Familial hemophagocytic lymphohistiocytosis 3
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
ZAP70base: Mutation registry for autosomal recessive ZAP70 immunodeficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
C1QAbase: Mutation registry for C1QA polypeptide deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
C1QBbase: Mutation registry for C1QB polypeptide deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
C1QCbase: Mutation registry for C1QC polypeptide deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
C1Sbase: Mutation registry for C1s deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
CD59base: Mutation registry for CD59 deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
CD8Abase: Mutation registry for CD8 alpha deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
CFDbase: Mutation registry for Factor D deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
IGHG2base: Mutation registry for IgG2 deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
BIRC4base: Mutation registry for X-linked lymphoproliferative syndrome
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
NRASbase: Mutation registry for Autoimmune lymphoproliferative syndrome type IV
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
STAT3base: Mutation registry for Hyper-IgE syndrome
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Stockholm
HUDDINGE
Swedish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Karolinska Institutet - Huddinge
Department of Medicine
SCHWEIZ
Suisse Alémanique
BASEL
SACHER: Swiss Adult Congenital HEart disease Registry
Universitätsspital Basel
Cardiology Department
SERBIA
Serbia
BELGRADE
Serbian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Clinical Center of Serbia
Institute of Haematology
SPANIEN
Cataluña
BARCELONA
Spanish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Hospital Universitari Vall d'Hebron
Servicio de Oncología y Hematología Pediátricas
SPANIEN
Cataluña
BELLATERRA
DNA repair biobank
Universitat Autònoma de Barcelona
Grupo de inestabilidad genómica y reparación del DNA
TSCHECHISCHE REPUBLIK
Hradec Kralove
HRADEC KRÁLOVÉ
Czech severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Fakultní nemocnice Hradec Králové - CHU Hradec Králové
Oddeleni klinicke hematolgie - Department of clinical hematology
TURKEI
TURKEY
ANKARA
Turkish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Ankara University - Faculty of medicine
Department of Pediatric Immunology-Allergy
UNGARN
Közép-Magyarország
DEBRECEN
Hungarian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
University of Debrecen
Department of children immunology and infectology
VEREINIGTES KONIGREICH
Greater London
LONDON
English severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
University College London Hospitals, NHS Foundation Trust
Haematology and oncology department
VEREINIGTES KONIGREICH
Greater Manchester
MANCHESTER
CCRN 2421 (Noonan/RASopathy patients): A registry study to characterize genetic and pathway biomarkers in Noonan syndrome and other RASopathy patients - UK
St Mary's Hospital
Manchester Cente for Genomic Medicine
VEREINIGTES KONIGREICH
Nottinghamshire
NOTTINGHAM
Ataxia-Telangiectasia International Registry (A-T Society)
William Whitehouse
Pediatric Neurology Department
VEREINIGTES KONIGREICH
Tyne & Wear
NEWCASTLE UPON TYNE
International A-T Registry
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
VEREINIGTES KONIGREICH
Tyne & Wear
NEWCASTLE UPON TYNE
The National Chronic Granulomatous Disease Registry
The Great North Children's Hospital, Royal Victoria Infirmary
Sir James Spence Institute of Child Health
VEREINIGTES KONIGREICH
West Yorkshire
LEEDS
English severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
St James's University Hospital
Paediatric Day Hospital
BELGIEN
OOST-VLAANDEREN
GENT
I-DSD: International Disorders of Sex Development registry - Flanders contribution (Ghent university hospital)
Ghent University Hospital - UZ Gent
Het Centrum voor geslachtsontwikkeling [DSD team]
DEUTSCHLAND
Hessen
GIEßEN
Mutationsdatenbank Retina International: RAB27A-Gen
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde
DEUTSCHLAND
Hessen
GIEßEN
Mutationsdatenbank Retina International: AP3B1-Gen
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde
DEUTSCHLAND
Nordrhein-Westfalen
MÜNSTER
Neuro-Herz-Register: Register für Patienten mit Herzbeteiligungen bei neuromuskulären Erkrankungen
Universitätsklinikum Münster
Herz-MRT-Zentrum
PORTUGAL
NORTE
PORTO
MitoBreak: The mitochondrial DNA breakpoints database.
CIIMAR - Interdisciplinary Centre of Marine and Environmental Research
SCHWEDEN
Region Skåne
LUND
ADAbase: Mutation registry for Adenosine deaminase deficiency (ADA)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
AICDAbase: Mutation registry for Non-X-linked hyper-IgM syndrome
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
AP3B1base: Mutation registry for Hermansky-Pudlak syndrome 2
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
CD3Dbase: Mutation registry for Autosomal recessive CD3delta deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
CD3Ebase: Mutation registry for autosomal recessive CD3epsilon immunodeficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
CD40base: Mutation registry for CD40 deficiency (previously known as TNFRSF5base)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
DCLRE1Cbase: Mutation registry for Artemis deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
GFI1base: Mutation registry for SCN and NI-CINA
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
IGHMbase: Mutation registry for æ heavy-chain deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
IGLL1base: Mutation registry for lambda 5 surrogate light-chain deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
IL7Rbase: Mutation registry for Interleukin-7 receptor alpha deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
ITGB2base: Mutation registry for Leukocyte adhesion deficiency I (LAD-I)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
JAK3base: Mutation registry for autosomal recessive severe combined JAK3 deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
LRRC8Abase: Mutation registry for Non-Bruton type autosomal dominant agammaglobulinemia
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
PTPRCbase: Mutation registry for CD45 deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
RAB27Abase: Mutation registry for Griscelli syndrome, type 2 (GS2)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
SLC35C1base: Mutation registry for Leucocyte adhesion deficiency I I (LAD-II) (previously known as FUCT1base)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
TAZbase: Mutation registry for Barth syndrome
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
UNGbase: Mutation registry for UNG deficiency (Hyper-IgM syndrome, type 5)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
CD79base: Mutation registry for Ig alpha deficiency
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
BTKbase: Mutation registry for X-linked agammaglobulinemia (XLA)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
CD40Lbase: Mutation registry for X-linked Hyper-IgM syndrome (XHIM)
Lund University
Department of Experimental Medical Science
SCHWEDEN
Region Skåne
LUND
MAPBPIPbase: Mutation registry for Endosomal adaptor protein p14 deficiency
Lund University
Department of Experimental Medical Science
DEUTSCHLAND
Rheinland-Pfalz
MAINZ
Deutsches Kinderkrebsregister (Eingebunden in das ACCIS-Projekt: Automated Childhood Cancer Information System, Mitglied von IACR und ENCR)
Institut für Medizinische Biometrie, Epidemiologie und Informatik (IMBEI)
Deutsches Kinderkrebsregister am IMBEI
SCHWEDEN
Region Skåne
LUND
HAX1base: Mutation registry for Severe congenital neutropenia (Kostmann disease)
Lund University
Department of Experimental Medical Science
Netzwerke für Register und Biobanken
SPANIEN
Madrid
MADRID
SpainRDR: Spanish Rare Disease Registries Research Network (patient registries)
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras
ITALIEN
LIGURIA
GENOVA
TELETHON NETWORK OF GENETIC BIOBANKS
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche
DEUTSCHLAND
Niedersachsen
HANNOVER
BMFS : Netzwerk für angeborene Störungen der Blutbildung (Patientenregister)
Medizinische Hochschule Hannover
Koordinationsstelle des Netzwerkes für angeborene Störungen der Blutbildung
ITALIEN
LIGURIA
GENOVA
EUROFEVER: PReS European network of registries for autoinflammatoy diseases in childhood
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
U.O.C. di Pediatria II - I.A.S. Malattie Autoinfiammatorie
DEUTSCHLAND
Niedersachsen
HANNOVER
SCNIR: Severe Chronic Neutropenia International Registry
Medizinische Hochschule Hannover
SCNIR - Europazentrale
NORWEGEN
Vestlandet
BERGEN