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Registri and biobanche

BELGIO

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

BELGIO

VLAAMS BRABANT
LEUVEN

Belgian registry of primary immunodeficiencies - contributes to the ESID European registry
UZ Leuven - Campus Gasthuisberg
Laboratory of Pediatric Immunology

BULGARIA

 South-West region
SOFIA

FRANCIA

ILE-DE-FRANCE
PARIS

CEREDIH: French primary immunodeficiencies registry
Hôpital Necker-Enfants Malades
Registre français des déficits immunitaires héréditaires

FRANCIA

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

GERMANIA

Baden-Württemberg
FREIBURG

Finanziato da un ente associato a IRDiRCPID-NET: German National Registry for Primary Immunodeficiencies (PID) - partner of the ESID registry
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANIA

Baden-Württemberg
FREIBURG

ESID: European registry of primary immunodeficiencies
Universitätsklinikum Freiburg
ESID Online Datenbank

GERMANIA

Baden-Württemberg
FREIBURG

GERMANIA

Bayern
MÜNCHEN

PID-NET: Decentral National Biomaterial Bank from patients with Primary Immunodeficiency Syndromes
Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
Care-for-Rare Center (CRCHauner)

IRLANDA

County Dublin
DUBLIN

ITALIA

LIGURIA
GENOVA

Finanziato da un ente associato a IRDiRCERN [RITA] - MERITA: UN REGISTRO DI METADATI PER ERN RITA
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
U.O. Pediatria II

POLONIA

Warszawa
WARSAW

Polish registry of primary immunodeficiencies - contributes to the ESID European registry
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Klinika Immunologii

PORTOGALLO

NORTE
PORTO

Portuguese registry of primary immunodeficiency diseases (REPORID)
Centro Hospitalar Universitário do Porto - Hospital Santo António
Centro Coordenador do REPORID

SPAGNA

Baleares
PALMA DE MALLORCA

BELGIO

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Central Registry of Rare Diseases (CRRD)
Sciensano
Health Services Research - Rare Diseases

FRANCIA

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)

SPAGNA

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

SPAGNA

Aragón
ZARAGOZA

Rare disease registry of Aragon (Spain)
Gobierno de Aragón. Departamento de Sanidad, Bienestar Social y Familia
Servicio de Evaluación y Acreditación Sanitaria

SPAGNA

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

SPAGNA

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

SPAGNA

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

SPAGNA

Comunidad Valenciana
VALENCIA

SIER-CV: Information System on rare diseases in Valencian Community (Spain)
FISABIO - Salud Pública
Área de Enfermedades Raras

SPAGNA

Extremadura
MÉRIDA

Registry for rare diseases in Extremadura (Spain)
Junta de Extremadura. Servicio Extremeńo de Salud
Subdirector de Epidemiología

SPAGNA

Galicia
SANTIAGO DE COMPOSTELA

RERGA: Registry for rare diseases in Galicia (Spain)
Servicio Gallego de Salud
Servicio de Análisis y Evaluación Asistencial

SPAGNA

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

SPAGNA

Madrid
MADRID

ReeR: Spanish National Registry of Rare Diseases
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras

SPAGNA

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

SPAGNA

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

SVIZZERA

Suisse Alémanique
BERN

Swiss Rare Disease Registry
Institute of Social and Preventive Medicine (ISPM)

SVIZZERA

Suisse Alémanique
ZÜRICH

Swiss Rare Disease Registry
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

AUSTRIA

TIROL
INNSBRUCK

Austrian Country Node of the Human Variome Project (HVP)
Medizinische Universität Innsbruck
Zentrum Medizinische Genetik Innsbruck

COREA DEL SUD

KOREA, REPUBLIC OF
SEOUL

Finanziato da un ente associato a IRDiRCKorean Mutation Database for Rare Diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory

DANIMARCA

Sjćlland
COPENHAGEN

Mendelian cytogenetics network online database
The Panum Institute-University of Copenhagen
Department of Cellular and Molecular Medicine

ESTONIA

Tartu
TARTU

Biobank of the Estonian Genome Centre
Institute of Genomics of University of Tartu
The Estonian Genome Centre

ITALIA

LIGURIA
GENOVA

Biobanca di linee cellulari e di DNA da pazienti affetti da malattie genetiche
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

ITALIA

LIGURIA
GENOVA

Finanziato da un ente associato a IRDiRCRete delle biobanche genetiche Telethon
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

MAROCCO

Rabat
RABAT

Moroccan National Genetic Database
Institut National d'Hygične
Département de génétique médicale

NORVEGIA

Řstlandet
OSLO

Norwegian registry on rare disorders
Oslo University Hospital, Ullevaal
Norsk register for sjeldne diagnoser

SPAGNA

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

SPAGNA

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

SPAGNA

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

SPAGNA

País Vasco
BARAKALDO

Finanziato da un ente associato a IRDiRCBasque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco

AUSTRIA

STEIERMARK
GRAZ

Skin cancer syndrome registry Graz
Medizinische Universität Graz
Universitätsklinik für Dermatologie und Venerologie

BELGIO

VLAAMS BRABANT
LEUVEN

Pediatric granulomatous arthritis international registry
UZ Leuven - Campus Gasthuisberg
Pediatric Rheumatology

BELGIO

VLAAMS BRABANT
LEUVEN

Biobank of the pediatric granulomatous arthritis international registry
UZ Leuven - Campus Gasthuisberg
Pediatric Rheumatology

FRANCIA

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

FRANCIA

ILE-DE-FRANCE
PARIS

French cohort of common variable immunodeficiency with hypogammaglobulinemia in adults (CVID)
CHU Paris-GH St-Louis Lariboisičre F.Widal - Hôpital Saint-Louis
Service d'Immuno-Hématologie

FRANCIA

ILE-DE-FRANCE
PARIS

BLAU registry: French pediatric granulomatous arthritis registry
Hôpital Necker-Enfants Malades
Service d'Immuno-hématologie pédiatrique - Rhumatologie

GERMANIA

Baden-Württemberg
FREIBURG

GERMANIA

Baden-Württemberg
FREIBURG

Finanziato da un ente associato a IRDiRCGAIN-Biobank: Consortial Biobank for patients with Inborn Errors of Multi-Organ Autoimmune Diseases
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANIA

Baden-Württemberg
TÜBINGEN

Neutropenia biobank - contributes to the SCN international registry (SCNIR)
Universitätsklinik für Kinder- und Jugendmedizin Tübingen
Abteilung für allgemeine Pädiatrie, Hämatologie/Onkologie

GERMANIA

Bayern
MÜNCHEN

MD-NET: Muscle Tissue Culture Collection (MTCC) (EuroBioBank partner)
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

GERMANIA

Niedersachsen
HANNOVER

ITALIA

LAZIO
ROMA

FMF: Registro Italiano della febbre mediterranea familiare nei giovani
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Sezione Pediatrica

ITALIA

LAZIO
ROMA

Registro italiano di pazienti adulti affetti da febbre mediterranea familiare
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Centro delle Febbri Periodiche - Istituto di Medicina Interna

ITALIA

LIGURIA
GENOVA

Galliera Genetic Bank
Ospedali Galliera
Dipartimento di Scienze genetiche, Perinatali e Ginecologiche

PAESI BASSI

Utrecht
NIEUWEGEIN

Finanziato da un ente associato a IRDiRCBiobank of Interstitial Lung Diseases (DNA/serum/plasma/BAL fluid)
St. Antonius Ziekenhuis, locatie Nieuwegein
Longcentrum

SPAGNA

Galicia
LUGO

REPA: Spanish registry of alveolar proteinosis
Hospital Universitario Lucus Augusti
Servicio de Neumología

SVEZIA

Region Skĺne
LUND

CD19base: Mutation registry for CD19 deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome and dyskeratosis congenita
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

ICOSbase: Mutation registry for ICOS deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

IFNGR1base: Mutation registry for IFN gamma 1-receptor deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

IFNGR2base: Mutation registry for IFN gamma 2-receptor deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

IKBKGbase: Mutation registry for Nemo deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

IL12Bbase: Mutation registry for Interleukin-12 (IL-12) p40 deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

IL12RB1base: Mutation registry for Interleukin-12 receptor á1 deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

IRAK4base: Mutation registry for IRAK4 deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

RAG1base: Mutation registry for autosomal recessive RAG1 deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

RAG2base: Mutation registry for autosomal recessive RAG2 deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

SVEZIA

Region Skĺne
LUND

STAT1base: Mutation registry for STAT1 deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

STAT5Bbase: Mutation registry for Growth hormone insensitivity with immunodeficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

TCN2base: Mutation registry for Transcobalamin II deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

SVEZIA

Region Skĺne
LUND

SVEZIA

Region Skĺne
LUND

TNFRSF13Bbase: Mutation registry for TACI deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

WASbase: Mutation registry for Wiskott-Aldrich syndrome (WAS)
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

ORAI1base: Mutation registry for Severe combined immunodeficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

TLR3base: Mutation registry for Influenza-associated encephalopathy
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

UNC93B1base: Mutation registry for UNC93B deficiency (Herpes simplex encephalitis)
Lund University
Department of Experimental Medical Science

AUSTRIA

OBERÖSTERREICH
LINZ

Austrian severe chronic neutropenia patient registry - contributes to the SCN international registry (SCNIR)
Kepler Universitätsklinikum - Med Campus IV.
Zentrum für Medizinische Genetik

AUSTRIA

OBERÖSTERREICH
LINZ

Non-Interventional, web-based Registry for Histiocytic Disorders
Ordensklinikum Linz GmbH Elisabethinen
Interne 1 - Hämatologie mit Stammzelltransplantation, Hämostaseologie und medizinische Onkologie

BELGIO

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

FRANCIA

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

FRANCIA

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 systčme complexe

FRANCIA

ILE-DE-FRANCE
PARIS

CoF-AT study: a French cohort on ataxia-telangiectasia
CLCC Institut Curie
Service de Génétique

GERMANIA

Hessen
FRANKFURT AM MAIN

Ataxia-Telangiectasia patient registry - contributes to the ESID Database
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Schwerpunkt Allergologie, Pneumologie und Mukoviszidose

GERMANIA

Hessen
GIEßEN

Mutation Database Retina International: Chediak Higashi Syndrome (LYST)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANIA

Hessen
MARBURG

German national case collection of familial pancreatic cancer
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Klinik für Visceral- Thorax- und Gefäßchirurgie

GERMANIA

Niedersachsen
HANNOVER

Finanziato da un ente associato a IRDiRCSCNIR: neutropenia cell bank
Medizinische Hochschule Hannover
SCNIR - Europazentrale

GRECIA

ATTIKI
ATHENS

IRLANDA

County Dublin
DUBLIN

Irish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Children's Health Ireland @ Temple Street
Department of Haematology

ISRAELE

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

ITALIA

LAZIO
ROMA

RIAT: Registro Italiano per l'Atassia Teleangiectasia
A.O. S. Andrea
Servizio di Genetica Medica

ITALIA

LAZIO
ROMA

ITALIA

LAZIO
ROMA

Database dei linfomi
Azienda Ospedaliera Sant'Andrea

ITALIA

PUGLIA
SAN GIOVANNI ROTONDO

Biobanca genetica di pazienti con Sindrome di Williams-Beuren ed altri disordini genomici
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
U.O.C. Genetica Medica

ITALIA

VENETO
VERONA

Registro Italiano per i pazienti affetti da Sindrome di Shwachman Diamond
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Trento
Centro Fibrosi Cistica

NORVEGIA

Řstlandet
OSLO

Norwegian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Oslo Universitetssykehus HF, Rikshospitalet
Barne- og ungdomsklinikken

PAESI BASSI

Gelderland
NIJMEGEN

Finanziato da un ente associato a IRDiRCERN [GENTURIS] - GENTURIS registry: The ERN Genetic Tumour Risk Syndromes Registry
Radboudumc - Radboud universitair medisch centrum
Sectie Klinische Genetica

PAESI BASSI

Utrecht
UTRECHT

Dutch severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Polikliniek Hematologie

POLONIA

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

PORTOGALLO

CENTRO
COIMBRA

REGNO UNITO; GRAN BRETAGNA

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

REGNO UNITO; GRAN BRETAGNA

Nottinghamshire
NOTTINGHAM

Ataxia-Telangiectasia International Registry (A-T Society)
William Whitehouse
Pediatric Neurology Department

REGNO UNITO; GRAN BRETAGNA

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

REGNO UNITO; GRAN BRETAGNA

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

REGNO UNITO; GRAN BRETAGNA

West Yorkshire
LEEDS

REPUBBLICA CECA

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

SPAGNA

Cataluńa
BARCELONA

Spanish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Hospital Universitari Vall d'Hebron
Servicio de Oncología y Hematología Pediátricas

SPAGNA

Cataluńa
BELLATERRA

DNA repair biobank
Universitat Autňnoma de Barcelona
Grupo de inestabilidad genómica y reparación del DNA

SVEZIA

Region Skĺne
LUND

BLMbase: Mutation registry for Bloom Syndrome
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

C2base: Mutation registry for C2 deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

C5base: Mutation registry for C5 deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

C6base: Mutation registry for C6 deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

C7base: Mutation registry for C7 deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

C8Bbase: Mutation registry for C8B deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

C9base: Mutation registry for C9 deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

CASP10base: Mutation registry for Autoimmune lymphoproliferative syndrome, type II (ALPS2)
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

CASP8base: Mutation registry for Caspase 8 deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

CD3Gbase: Mutation registry for autosomal recessive CD3gamma immunodeficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

CEBPEbase: Mutation registry for Neutrophil-specific granule deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

CFHbase: Mutation registry for Factor H deficiency (previously known as HF1base)
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

CFIbase: Mutation registry for Factor I deficiency (previously known as IFbase)
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

SVEZIA

Region Skĺne
LUND

CTSCbase: Mutation registry for Papillon-Lefevre syndrome
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

SVEZIA

Region Skĺne
LUND

SVEZIA

Region Skĺne
LUND

DNMT3Bbase: Mutation registry for ICF syndrome
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

ELA2base: Mutation registry for Cyclic and congenital neutropenia
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

SVEZIA

Region Skĺne
LUND

IL2RAbase: Mutation registry for Interleuken 2 receptor alpha deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

LIG4base: Mutation registry for LIG4 syndrome
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

LYSTbase: Mutation registry for Chediak-Higashi syndrome (previously known as CHS1base)
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

MPObase: Mutation registry for Myeloperoxidase deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

MRE11Abase: Mutation registry for Ataxia-telangiectasia-like disorder (ATLD)
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

SVEZIA

Region Skĺne
LUND

SVEZIA

Region Skĺne
LUND

NPbase: Mutation registry for PNP deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

SVEZIA

Region Skĺne
LUND

RAC2base: Mutation registry for Neutrophil immunodeficiency syndrome
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

RFX5base: Mutation registry for MHCII promoter X box regulatory factor 5 deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

SVEZIA

Region Skĺne
LUND

RFXAPbase: Mutation registry for Regulatory factor X-associated protein deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

SBDSbase: Mutation registry for Shwachman-Diamond syndrome
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

SH2D1Abase: Mutation registry for X-linked lymphoproliferative syndrome (XLP)
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

SMARCAL1base: Mutation registry for Schimke immuno-osseous dysplasia
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

SPINK5base: Mutation registry for Netherton syndrome
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

STX11base: Mutation registry for Familial haemophagocytic lymphohistiocytosis 4 (FHL4)
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

TAP1base: Mutation registry for TAP1 deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

TAP2base: Mutation registry for TAP2 deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

TAPBPbase: Mutation registry for Tapasin deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

UNC13Dbase: Mutation registry for Familial hemophagocytic lymphohistiocytosis 3
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

ZAP70base: Mutation registry for autosomal recessive ZAP70 immunodeficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

C1QAbase: Mutation registry for C1QA polypeptide deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

C1QBbase: Mutation registry for C1QB polypeptide deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

C1QCbase: Mutation registry for C1QC polypeptide deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

C1Sbase: Mutation registry for C1s deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

CD59base: Mutation registry for CD59 deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

CD8Abase: Mutation registry for CD8 alpha deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

CFDbase: Mutation registry for Factor D deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

IGHG2base: Mutation registry for IgG2 deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

BIRC4base: Mutation registry for X-linked lymphoproliferative syndrome
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

NRASbase: Mutation registry for Autoimmune lymphoproliferative syndrome type IV
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

STAT3base: Mutation registry for Hyper-IgE syndrome
Lund University
Department of Experimental Medical Science

SVEZIA

Region Stockholm
HUDDINGE

SVIZZERA

Suisse Alémanique
BASEL

SACHER: Swiss Adult Congenital HEart disease Registry
Universitätsspital Basel
Cardiology Department

TURCHIA

TURKEY
ANKARA

Turkish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Ankara University - Faculty of medicine
Department of Pediatric Immunology-Allergy

UNGHERIA

Közép-Magyarország
DEBRECEN

Hungarian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
University of Debrecen
Department of children immunology and infectology

BELGIO

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]

GERMANIA

Hessen
GIEßEN

Mutation Database Retina International: Small Nucleotide-binding Protein 27a Gene (RAB27A)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANIA

Hessen
GIEßEN

Mutation Database Retina International: Adaptin b3a Gene (AP3B1)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANIA

Nordrhein-Westfalen
MÜNSTER

PORTOGALLO

NORTE
PORTO

MitoBreak: The mitochondrial DNA breakpoints database.
CIIMAR - Interdisciplinary Centre of Marine and Environmental Research

SVEZIA

Region Skĺne
LUND

ADAbase: Mutation registry for Adenosine deaminase deficiency (ADA)
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

AICDAbase: Mutation registry for Non-X-linked hyper-IgM syndrome
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

AP3B1base: Mutation registry for Hermansky-Pudlak syndrome 2
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

CD3Dbase: Mutation registry for Autosomal recessive CD3delta deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

CD3Ebase: Mutation registry for autosomal recessive CD3epsilon immunodeficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

CD40base: Mutation registry for CD40 deficiency (previously known as TNFRSF5base)
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

DCLRE1Cbase: Mutation registry for Artemis deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

GFI1base: Mutation registry for SCN and NI-CINA
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

IGHMbase: Mutation registry for ć heavy-chain deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

IGLL1base: Mutation registry for lambda 5 surrogate light-chain deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

IL7Rbase: Mutation registry for Interleukin-7 receptor alpha deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

ITGB2base: Mutation registry for Leukocyte adhesion deficiency I (LAD-I)
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

JAK3base: Mutation registry for autosomal recessive severe combined JAK3 deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

LRRC8Abase: Mutation registry for Non-Bruton type autosomal dominant agammaglobulinemia
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

PTPRCbase: Mutation registry for CD45 deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

RAB27Abase: Mutation registry for Griscelli syndrome, type 2 (GS2)
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

SVEZIA

Region Skĺne
LUND

TAZbase: Mutation registry for Barth syndrome
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

UNGbase: Mutation registry for UNG deficiency (Hyper-IgM syndrome, type 5)
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

CD79base: Mutation registry for Ig alpha deficiency
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

BTKbase: Mutation registry for X-linked agammaglobulinemia (XLA)
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

CD40Lbase: Mutation registry for X-linked Hyper-IgM syndrome (XHIM)
Lund University
Department of Experimental Medical Science

SVEZIA

Region Skĺne
LUND

MAPBPIPbase: Mutation registry for Endosomal adaptor protein p14 deficiency
Lund University
Department of Experimental Medical Science

GERMANIA

Rheinland-Pfalz
MAINZ

German childhood cancer registry (Partner of ACCIS: Automated Childhood Cancer Information System, Member of IACR and ENCR)
Institut für Medizinische Biometrie, Epidemiologie und Informatik (IMBEI)
Deutsches Kinderkrebsregister am IMBEI

SVEZIA

Region Skĺne
LUND

HAX1base: Mutation registry for Severe congenital neutropenia (Kostmann disease)
Lund University
Department of Experimental Medical Science

Network di registri and biobanche

ITALIA

LIGURIA
GENOVA

Network di Biobanche Genetiche di Telethon
  • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
  • Centro di diagnostica genetica e biochimica delle malattie metaboliche
  • ITALIA

    LIGURIA
    GENOVA

    EUROFEVER: PReS network europeo di registri sulle sindromi autoinfiammatorie in etŕ pediatrica
  • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
  • U.O.C. di Pediatria II - I.A.S. Malattie Autoinfiammatorie
  • GERMANIA

    Niedersachsen
    HANNOVER

    SCNIR: Severe Chronic Neutropenia International Registry
  • Medizinische Hochschule Hannover
  • SCNIR - Europazentrale