<?xml version="1.0" encoding="UTF-8"?>
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<docDscr>
  <citation>
    <titlStmt>
      <titl>French National Registry for Primary Immunodeficiencies</titl>
      <IDNo>FRESH-PEF184-en</IDNo>
    </titlStmt>
    <prodStmt>
      <producer abbr="" affiliation="ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)" role="">Nizar MAHLAOUI</producer>
    </prodStmt>
    <verStmt>
      <version></version>
    </verStmt>
  </citation>
</docDscr>
<stdyDscr>
  <citation>
    <titlStmt>
      <titl>
                French National Registry for Primary Immunodeficiencies            </titl>
      <altTitl>
                    CEREDIH                </altTitl>
      <IDNo agency="FReSH-lang">
                FRESH-PEF184-en            </IDNo>
      <IDNo agency="PEF">
                    184                </IDNo>
      <IDNo agency="FReSH">
                    FRESH-PEF184                </IDNo>
    </titlStmt>
    <rspStmt>
      <AuthEnty>
                    Alain FISCHER                                                                                                                            </AuthEnty>
      <AuthEnty affiliation="ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)">
        <ExtLink title="ROR" URI="https://ror.org/00pg5jh14" role="organisation id"/>
        <ExtLink title="SIREN" URI="267500452" role="organisation id"/>
      </AuthEnty>
      <AuthEnty>
                    Nizar MAHLAOUI                                                                                                                            </AuthEnty>
      <AuthEnty affiliation="ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)">
        <ExtLink title="ROR" URI="https://ror.org/00pg5jh14" role="organisation id"/>
        <ExtLink title="SIREN" URI="267500452" role="organisation id"/>
      </AuthEnty>
      <othId affiliation="" type="">
                                    </othId>
    </rspStmt>
    <prodStmt>
      <producer role="sponsor">
                                            ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)                    
                                    </producer>
      <prodPlac>
                Epidemiology France Portal (PEF)            </prodPlac>
      <fundAg>
                                            MINISTERE DU TRAVAIL, DE LA SANTE, DES SOLIDARITES ET DES FAMILLES                    
                                    </fundAg>
    </prodStmt>
    <distStmt>
      <distrbtr abbr="null">
                    null</distrbtr>
      <contact affiliation="ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)" email="alain.fischer@aphp.fr">
                    Alain;FISCHER
                                            <ExtLink title="ROR" URI="https://ror.org/00pg5jh14" role="organisation id"/>
                                            <ExtLink title="SIREN" URI="267500452" role="organisation id"/>
                                    </contact>
      <contact affiliation="ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP)" email="nizar.mahlaoui@aphp.fr">
                    Nizar;MAHLAOUI
                                            <ExtLink title="ROR" URI="https://ror.org/00pg5jh14" role="organisation id"/>
                                            <ExtLink title="SIREN" URI="267500452" role="organisation id"/>
                                    </contact>
      <depDate date="2026-06-17"/>
      <distDate date="2026-06-17"/>
    </distStmt>
    <biblCit format="">
            </biblCit>
    <holdings URI="null"/>
    <notes> </notes>
  </citation>
  <stdyInfo>
    <studyBudget/>
    <subject>
      <keyword vocab="" vocabURI="">
                    primary immunodeficiency</keyword>
      <keyword vocab="" vocabURI="">
                    rare disease</keyword>
      <keyword vocab="" vocabURI="">
                    immune system</keyword>
      <keyword vocab="" vocabURI="">
                    autoimmunity</keyword>
      <keyword vocab="" vocabURI="">
                    genetic anomaly</keyword>
      <keyword vocab="" vocabURI="">
                    infection</keyword>
      <keyword vocab="" vocabURI="">
                    cancer</keyword>
      <topcClas vocab="health theme">
                        Clinical immunology                                                        <ExtLink title="ESV" URI="http://data.europa.eu/8mn/euroscivoc/7a3cf568-46ba-4840-be8f-f22fc030139f"/>
                                                            <ExtLink title="MeSH" URI="http://id.nlm.nih.gov/mesh/D000486"/>
                                                </topcClas>
      <topcClas vocab="cim-11">
                        Primary immunodeficiencies due to disorders of innate immunity                                            </topcClas>
      <topcClas vocab="health determinant">
                        Biological determinants: Genetic predisposition                    </topcClas>
      <topcClas vocab="health determinant">
                        Healthcare system determinants: Use of care                    </topcClas>
      <topcClas vocab="health determinant">
                        Biological determinants                    </topcClas>
      <topcClas vocab="health determinant">
                        Healthcare system determinants                    </topcClas>
    </subject>
    <abstract contentType="purpose">The main objective of the French national registry for primary immunodeficiency (PID) is to list all patients - living or deceased - who are suffering or have suffered from these diseases in France so as to estimate and monitor their prevalence, incidence, demographic characteristics, age at diagnosis, period of time between first symptoms and diagnosis, survival and mortality.</abstract>
    <abstract contentType="abstract">null</abstract>
    <sumDscr>
      <collDate event="start" date="2006-01-01"/>
      <nation abbr="fr">
                    France
                                            <concept vocab="ISO" vocabURI="fr"/>
                                    </nation>
      <geogUnit/>
      <anlyUnit>
                Individuals            </anlyUnit>
      <universe level="type" clusion="I">Patients population                    </universe>
      <universe level="sex" clusion="I">Male                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D008297"/>
                                                    </universe>
      <universe level="sex" clusion="I">Female                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D005260"/>
                                                    </universe>
      <universe level="age" clusion="I">Infant, Newborn (birth to 28 days)                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D007231"/>
                                                    </universe>
      <universe level="age" clusion="I">Infant (28 days to 2 years)                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D007223"/>
                                                    </universe>
      <universe level="age" clusion="I">Child, Preschool (2 to 5 years)                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D002675"/>
                                                    </universe>
      <universe level="age" clusion="I">Child (6 to 12 years)                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D002648"/>
                                                    </universe>
      <universe level="age" clusion="I">Young Adult (19 to 24 years)                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D055815"/>
                                                    </universe>
      <universe level="age" clusion="I">Adult (25 to 44 years)                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D000328"/>
                                                    </universe>
      <universe level="age" clusion="I">Middle Aged (45 to 64 years)                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D008875"/>
                                                    </universe>
      <universe level="age" clusion="I">Aged (65 to 79 years)                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D000368"/>
                                                    </universe>
      <universe level="age" clusion="I">Aged, 80 and over (80 years and more)                                                            <concept vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D000369"/>
                                                    </universe>
      <universe clusion="I">Alive and deceased patients with primary immunodeficiency in France                    </universe>
      <dataKind>Clinical data</dataKind>
      <dataKind>Biological data</dataKind>
      <dataKind>Socio-demographic data</dataKind>
      <dataKind>Paraclinical data (non-biological) : Imaging</dataKind>
    </sumDscr>
  </stdyInfo>
  <studyDevelopment>
    <developmentActivity type="primary evaluation">
      <description>Health event/morbidity
Health event/mortality
Quality of life/health perception</description>
    </developmentActivity>
  </studyDevelopment>
  <method>
    <dataColl>
      <sampProc>Other                                                            <concept vocab="CESSDA" vocabURI="Other"/>
                                                    </sampProc>
      <targetSampleSize>
        <sampleSizeFormula>[1000-10000[ individuals                        </sampleSizeFormula>
      </targetSampleSize>
      <collMode>Converting or copying information into a structured record                                                            <concept vocab="CESSDA" vocabURI="Transcription"/>
                                                    </collMode>
      <collMode>Interview with the participant (including clinical)                                                            <concept vocab="CESSDA" vocabURI="Interview"/>
                                                    </collMode>
    </dataColl>
    <notes>Observational Study</notes>
    <notes subject="research type">
                        Observational Study                    </notes>
    <notes subject="observational study method">
                        Morbidity registry                    </notes>
    <anlyInfo>
      <respRate>664 en 2006, 1370 en 2007, 815 en 2008 et 411 en 2009, ce qui faisait un total de 3360 cas au 1er janvier 2010 Nombre de nouveaux cas attendus par an dans cette population estimé à : 160 (fréquence : 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)</respRate>
    </anlyInfo>
    <stdyClas>Unknown</stdyClas>
  </method>
  <dataAccs>
    <setAvail>
      <avlStatus>
                            Restricted access                                                    </avlStatus>
    </setAvail>
    <useStmt>
      <conditions>If a team wished to work on the registry&amp;#x27;s data, the project would have to be submitted to the CEREDIH scientific advisory board.</conditions>
    </useStmt>
  </dataAccs>
  <othrStdyMat>
    <relMat>Access on specific project only</relMat>
  </othrStdyMat>
</stdyDscr>
<dataDscr>
</dataDscr></codeBook>
