{"doc_desc":{"title":"Registre national des d\u00e9ficits immunitaires h\u00e9r\u00e9ditaires (enfants et adultes)","idno":"FRESH-PEF184-fr","producers":[{"name":"Nizar MAHLAOUI","affiliation":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF184-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"184"},{"agency":"FReSH","code":"FRESH-PEF184"}]},"title":"Registre national des d\u00e9ficits immunitaires h\u00e9r\u00e9ditaires (enfants et adultes)","alternate_title":"CEREDIH"},"study_authorization":{"agency":[{"name":"CNIL"}]},"authoring_entity":[{"type":"investigator","name":"Alain;FISCHER","PILabo":"APHP \/ CEREDIH Centre de r\u00e9f\u00e9rence D\u00e9ficits Immunitaires H\u00e9r\u00e9ditaires INSERM U768 (D\u00e9veloppement normal et pathologique du syst\u00e8me immunitaire) Fondation Imagine","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","extlink":[{"title":"ORCID","uri":"0000-0003-4025-5983","role":"pi id"},{"title":"IdRef","uri":"060735457","role":"pi id"},{"title":"SIREN","uri":"267500452","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"alain.fischer@aphp.fr","isContact":"Oui"},{"type":"investigator","name":"Nizar;MAHLAOUI","PILabo":"APHP, Groupe Hospitalier Necker enfants \/ CEREDIH Centre de r\u00e9f\u00e9rence D\u00e9ficits Immunitaires H\u00e9r\u00e9ditaires","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","extlink":[{"title":"ORCID","uri":"0000-0002-0030-8094","role":"pi id"},{"title":"IdRef","uri":"092185169","role":"pi id"},{"title":"SIREN","uri":"267500452","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"nizar.mahlaoui@aphp.fr","isContact":"Oui"}],"oth_id":[{"name":""}],"production_statement":{"prod_place":"Portail Epid\u00e9miologie France (PEF)","producers":[{"name":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00pg5jh14","role":"sponsor id"},{"title":"SIREN","uri":"267500452","role":"sponsor id"}],"role":"sponsor"}],"funding_agencies":[{"name":"MINISTERE DU TRAVAIL, DE LA SANTE, DES SOLIDARITES ET DES FAMILLES","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/01wp0c315"},{"title":"SIREN","uri":"130016546"}]},{"name":"","extlink":[]}]},"distribution_statement":{"contact":[{"name":"Alain;FISCHER","email":"alain.fischer@aphp.fr","type":"contact","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/00pg5jh14","role":"organisation id","title":"ROR"},{"uri":"267500452","role":"organisation id","title":"SIREN"}]},{"name":"Nizar;MAHLAOUI","email":"nizar.mahlaoui@aphp.fr","type":"contact","affiliationName":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","contactPointLabo":"","extlink":[{"uri":"https:\/\/ror.org\/00pg5jh14","role":"organisation id","title":"ROR"},{"uri":"267500452","role":"organisation id","title":"SIREN"}]}]},"study_info":{"keywords":[{"keyword":"d\u00e9ficit immunitaire h\u00e9r\u00e9ditaire"},{"keyword":"syst\u00e8me immunitaire"},{"keyword":"auto-immunit\u00e9"},{"keyword":"anomalie g\u00e9n\u00e9tique"},{"keyword":"maladie rare"},{"keyword":"infection"},{"keyword":"cancer"},{"keyword":"Allergies"}],"topics":[{"topic":"Immunologie m\u00e9dicale","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/7a3cf568-46ba-4840-be8f-f22fc030139f"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D000486"}]},{"topic":"D\u00e9ficits immunitaires primitifs dus \u00e0 des troubles de l'immunit\u00e9 inn\u00e9e","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/551037838","title":"CIM-11"}]},{"topic":"D\u00e9terminants biologiques : Pr\u00e9dispositions g\u00e9n\u00e9tiques","vocab":"health determinant"},{"topic":"D\u00e9terminants li\u00e9s au syst\u00e8me de sant\u00e9 : Consommation des soins","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques","vocab":"health determinant"},{"topic":"D\u00e9terminants li\u00e9s au syst\u00e8me de sant\u00e9","vocab":"health determinant"}],"purpose":"L\u2019objectif principal du registre des d\u00e9ficits immunitaires h\u00e9r\u00e9ditaires (DIH) est de recenser tous les patients, vivants et d\u00e9c\u00e9d\u00e9s, atteints de ces pathologies en France afin de pouvoir estimer et surveiller leur pr\u00e9valence, leur incidence, leurs caract\u00e9ristiques d\u00e9mographiques, l\u2019\u00e2ge au diagnostic, le d\u00e9lai entre les premiers sympt\u00f4mes et le diagnostic, la mortalit\u00e9.","abstract":"","coll_dates":[{"start":"2006-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"","analysis_unit":"Individus","universe":"{\n    \"level_sex_clusion_I\": [\n        {\n            \"value\": \"Masculin\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D008297\"\n            }\n        },\n        {\n            \"value\": \"F\u00e9minin\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D005260\"\n            }\n        }\n    ],\n    \"level_age_clusion_I\": [\n        {\n            \"value\": \"Nouveau-n\u00e9 (naissance \u00e0 28j)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007231\"\n            }\n        },\n        {\n            \"value\": \"Nourrisson (28j \u00e0 2 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007223\"\n            }\n        },\n        {\n            \"value\": \"Petite enfance (2 \u00e0 5 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D002675\"\n            }\n        },\n        {\n            \"value\": \"Enfance (6 \u00e0 12 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D002648\"\n            }\n        },\n        {\n            \"value\": \"Adolescence (13 \u00e0 18 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000293\"\n            }\n        },\n        {\n            \"value\": \"Adulte (19 \u00e0 24 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D055815\"\n            }\n        },\n        {\n            \"value\": \"Adulte (25 \u00e0 44 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000328\"\n            }\n        },\n        {\n            \"value\": \"Adulte (45 \u00e0 64 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D008875\"\n            }\n        },\n        {\n            \"value\": \"Personne \u00e2g\u00e9e (65 \u00e0 79 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000368\"\n            }\n        },\n        {\n            \"value\": \"Grand \u00e2ge (80 ans et plus)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D000369\"\n            }\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"sujets vivants atteints ou d\u00e9c\u00e9d\u00e9s de d\u00e9ficits immunitaires h\u00e9r\u00e9ditaires\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Donn\u00e9es cliniques','Donn\u00e9es paracliniques','Donn\u00e9es biologiques','Donn\u00e9es socio-d\u00e9mographiques','Donn\u00e9es paracliniques (hors biologiques) : Imagerie']","quality_statement":{"standards":[{"name":"","committee":"","governance":""}],"other_quality_statement":""}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"Ev\u00e9nements de sant\u00e9\/morbidit\u00e9\r\nEv\u00e9nements de sant\u00e9\/mortalit\u00e9\r\nQualit\u00e9 de vie\/sant\u00e9 per\u00e7ue"}]},"method":{"data_collection":{"time_method":"","frequency":"","sampling_procedure":"['{\"concept\":{\"vocabURI\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Autre\"}']","sample_frame":{"frame_unit":{"unit_type":""}},"coll_mode":["{\"concept\":{\"vocabURI\":\"Transcription\",\"vocab\":\"CESSDA\"},\"value\":\"Transcription et saisie d\u2019informations dans un enregistrement structur\u00e9\"}","{\"concept\":{\"vocabURI\":\"Interview\",\"vocab\":\"CESSDA\"},\"value\":\"Entretien avec le participant (dont clinique)\"}"],"research_instrument":"Acc\u00e8s restreint sur projet sp\u00e9cifique","sources":[],"target_sample_size":"[1000-10000[ individus","response_rate":"664 en 2006, 1370 en 2007, 815 en 2008 et 411 en 2009, ce qui faisait un total de 3360 cas au 1er janvier 2010Nombre de nouveaux cas attendus par an dans cette population estim\u00e9 \u00e0 : 160 (fr\u00e9quence : 1\/5000 et 800 000 naissances\/an)664 in 2006, 1,370 in 2007, 815 in 2008 and 411 in 2009, making a total of 3,360 cases as at January 1st 2010.Number of new cases expected per year in this population estimated to be: 160 (frequency: 1\/5,000 and 800,000 births\/year)"},"method_notes":"Etude observationnelle","study_class":"Inconnu","notes":[{"subject":"research type","values":["Etude observationnelle"]},{"subject":"observational study method","values":["Registre de morbidit\u00e9"]}]},"data_access":{"dataset_availability":{"access_place":"","complete":"","status":"{\"value\":\"Acc\u00e8s r\u00e9serv\u00e9\",\"extLink\":[{\"title\":\"COAR\",\"uri\":\"http:\/\/purl.org\/coar\/access_right\/c_16ec\"}]}"},"dataset_use":{"restrictions":"","conditions":"Si une \u00e9quipe souhaitait travailler sur les donn\u00e9es du registre, il faudrait soumettre le projet au conseil scientifique du CEREDIH.","conf_dec":[{"txt":""}],"spec_perm":[{"txt":"","required":""}],"contact":[{"name":""}],"deposit_req":"","cit_req":""},"notes":""}},"additional":{"IsImport":true,"versionLang":"fr","originLang":"fr","autoTranslation":false,"status":"imported","creationDate":"16-12-2010","lastUpdatedAuto":null,"lastUpdatedManual":"19-05-2025","isContributorPI":"Non","contributorName":"Nizar MAHLAOUI","contributorAffiliation":"ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":[""]},"relatedDocument":[{"type":"","title":"","link":"http:\/\/www.ceredih.fr"}],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Public (France)","Industrie"],"otherFundingAgentType":["",""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":""},"collaborations":{"networkConsortium":""},"theme":{"complementaryInformation":"","RareDiseases":"Oui"},"activeFollowUp":{"isActiveFollowUp":"Oui","followUpModeOther":""},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"inclusionGroups":[],"collectionProcess":{"collectionModeDetails":"","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":"Non"},"geographicalCoverage":{"geoDetail":"France m\u00e9tropolitaine et Dom-Tom"},"dataTypes":{"clinicalDataDetails":"","biologicalDataDetails":"NFS, Dosage pond\u00e9ral des Ig, Ph\u00e9notypage lymphocytaire, Compl\u00e9ment, Explorations phagocytose, Analyses G\u00e9n\u00e9tiques","isDataInBiobank":"Non","biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":"Oui","fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}