[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"apeced\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:apeced":29},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,49,59],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":30,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":39,"lastUpdatePostDateStruct":40,"startDateStruct":43,"completionDateStruct":4,"leadSponsor":45,"locationsCount":48},"100053339","natural-history-of-individuals-with-immune-system-problems-that-lead-to-fungal-infections-100053339",false,"NCT01386437","Natural History of Individuals With Immune System Problems That Lead to Fungal Infections","The Natural History and Pathogenesis of Human Fungal Infections","* INCLUSION CRITERIA:\n\nPatients:\n\nPatients with or without inherited or acquired abnormalities of immune function manifesting mucocutaneous and\u002For invasive fungal infections are eligible for screening and assessment under this protocol. Specifically, patients must meet all the following inclusion criteria in order to participate in this study:\n\nAdults or children (regardless of age, sex, or ethnicity\u002Frace) with a known or yet uncharacterized inherited immunodeficiency and a definitively diagnosed mucocutaneous or invasive fungal infection.\n\nOR\n\nAdults or children (regardless of age, sex, or ethnicity\u002Frace) with acquired immunodeficiency and a severe, unusual, persistent or treatment-refractory chronic mucocutaneous fungal infection.\n\nOR\n\nAdults or children (regardless of age, sex, or ethnicity\u002Frace) with acquired immunodeficiency and a possible, probable or proven invasive fungal infection (European Organization for Research and Treatment of Cancer \u002F Mycoses Study Group criteria).\n\nOR\n\nAdults or children (regardless of age, sex, or ethnicity\u002Frace) with a well-documented prior, unusual, severe, persistent, or treatment-refractory mucocutaneous or invasive fungal infection(s), who have clinically recovered from the fungal infection.\n\nOR\n\nAdults or children (regardless of age, sex, or ethnicity\u002Frace) with confirmed or suspected autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) who have not yet developed CMC.\n\nOngoing care by a referring\u002Fprimary care physician (inside or outside NIH).\n\nWilling to allow storage of blood and tissue samples for future analyses.\n\nWilling to allow genetic testing from blood, body fluids or tissue specimens.\n\nWilling to have HIV testing\n\nAble to provide informed consent or be accompanied by a parent(s)\u002Flegal guardian(s) or legally authorized representative (LAR) who is able to provide informed consent.\n\nNo children under the age of 2 years will be seen at the Clinical Center, however they will be able to participate via mail-in specimens\n\nPatient Relatives:\n\nIndividuals (regardless of age, sex, or ethnicity\u002Frace) who are genetically related to the patient (e.g., mother, father, siblings, children) may be recruited to establish the genetic origin of immune defects that may be identified in the study patients at the discretion of the PI. Relatives must meet all the following inclusion criteria in order to participate in this study:\n\nWilling to allow storage of blood and tissue samples for future analyses.\n\nWilling to allow genetic testing from blood, body fluids or tissue specimens.\n\nWilling to have HIV testing\n\nAble to provide informed consent or, if younger than 18, be accompanied by a parent(s)\u002Flegal guardian(s) who is able to provide informed consent.\n\nHealthy Volunteers:\n\nHealthy adults regardless of sex, and ethnicity\u002Frace between the ages of 18 and 85 years old may be eligible to participate in this study. Healthy volunteers must meet all the following inclusion criteria in order to participate in this study:\n\nWilling to allow storage of blood and tissue samples for future analyses.\n\nWilling to allow genetic testing from blood, body fluids or tissue specimens.\n\nWilling to have HIV testing\n\nAble to provide informed consent\n\nNIH employees are eligible\n\nEXCLUSION CRITERIA:\n\nPatients:\n\nA patient will not be eligible if he\u002Fshe has any of the following:\n\nAny condition which, in the investigator's opinion, may interfere with the evaluation of a co-existing abnormality of immunity that is the subject of study under this protocol.\n\nAny condition which, in the investigator's opinion, places the patient at undue risk by participating in the study.\n\nUnwillingness to undergo testing or procedures associated with this protocol.\n\nHemoglobin of \\\u003C 7 gm\u002FdL. If a patient is enrolled solely to obtain left-over pathology specimens, saliva, a buccal sample, skin swab, vaginal swab, or a stool sample, this exclusion criteria will not apply as there will be no blood withdrawal.\n\nPatient Relatives:\n\nA genetically related relative will not be eligible for this study if he\u002Fshe has any condition which, in the investigator's opinion, may interfere with the evaluation of an immune system abnormality that is the subject of study under this protocol.\n\nHealthy Volunteers:\n\nA healthy volunteer will not be eligible if he\u002Fshe has any of the following:\n\nHIV infection.\n\nHistory of recurrent or severe infections.\n\nHistory of an underlying malignancy or receipt of cancer chemotherapy within the past 5 years\n\nReceipt of systemic corticosteroids or other systemic immunosuppressants or immunomodulators within the past 30 days\n\nPregnancy or lactating\n\nHistory of heart, lung, kidney disease, or bleeding disorders.\n\nAny condition which, in the investigator's opinion, may interfere with the comparison of clinical specimens against those obtained from affected subjects.",true,"ALL","1 Day","99 Years",{"count":21,"type":22},1200,"ESTIMATED","OBSERVATIONAL","Background:\n\n\\- The immune system is made up of special cells, tissues, and organs that fight infections. Problems with this system may lead to frequent, severe, or unusual fungal infections. These infections are often difficult to treat. Researchers want to collect blood and tissue samples from people who have unusual, persistent or severe fungal infections or immune problems that increase the risk of these infections.\n\nObjectives:\n\n\\- To collect medical information and samples for a long-term study of people with immune system problems that lead to fungal infections.\n\nEligibility:\n\n* People with a history of fungal infections caused by immune system problems.\n* Parents, children, and siblings of this group.\n* Healthy volunteers not related to the first two groups.\n\nDesign:\n\n* This long-term study may last for up to 25 years. Those in the study may need to provide new information about every 6 months. The procedures for each person may vary with the particular diagnosis and the extent of fungal infection. Healthy volunteers may have only one or two visits.\n* At the first visit, those in the study will have a full medical history and physical exam. They will also provide blood.\n* Research procedures may include the following:\n* Saliva, urine or stool testing\n* Mouthwash collection for DNA testing\n* Collection of cheek cells, nail clippings, or vaginal fluid\n* Tests of leftover tissue or body fluid from previous medical procedures\n* Skin or oral mucous membrane biopsy\n* Collection of white blood cells\n* Followup visits will involve a physical exam and updated medical history. Blood, saliva, urine, or nail clipping samples may be taken for ongoing studies. Any additional tests or exams required by the study doctors may also be done.\n* Participants may withdraw from the study pool at any time.",[26,27,28,29],"Chronic Mucocutaneous Candidiasis","Invasive Aspergillosis","CARD9","APECED",[31,32,33,34,35,36,37],"Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)","Fungal Infections","Molds","Autoimmune Polyendocrinpathy Syndrome (APS) Type 1","Natural History","Mucocutaneous Fungal Infection","Invasive Fungal Infection","RECRUITING","2026-07-10",{"date":41,"type":42},"2026-07-13","ACTUAL",{"date":44,"type":42},"2012-11-05",{"name":46,"class":47},"National Institute of Allergy and Infectious Diseases (NIAID)","NIH",1,{"id":50,"slug":4,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":51,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":52,"keywords":53,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":54,"lastUpdatePostDateStruct":55,"startDateStruct":57,"completionDateStruct":4,"leadSponsor":58,"locationsCount":48},"100162362",{"count":21,"type":22},[26,27,28,29],[31,32,33,34,35,36,37],"2026-06-17",{"date":56,"type":42},"2026-06-18",{"date":44,"type":42},{"name":46,"class":47},{"id":60,"slug":61,"hasResults":11,"nctId":62,"briefTitle":63,"officialTitle":63,"acronym":64,"eligibilityCriteria":65,"healthyVolunteers":11,"sex":17,"minAge":66,"maxAge":67,"enrollmentInfo":68,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":70,"conditions":71,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":91,"lastUpdatePostDateStruct":92,"startDateStruct":94,"completionDateStruct":96,"leadSponsor":98,"locationsCount":48},"100431799","conception-of-a-diagnosis-prognosis-and-therapeutic-decision-tool-for-patients-with-autoimmunity-and-inflammation-100431799","NCT04902807","Conception of a Diagnosis, Prognosis and Therapeutic Decision Tool for Patients With Autoimmunity and Inflammation","ATRACTion","Inclusion Criteria for controls (patients relatives and unrelated subjects):\n\n* Individuals aged\\\u003C18 y\u002Fo.\n* Individuals \\> 6 kg\n* Individuals not affected by an immune-related disease or not affected by cancer\n* Individuals whose parents have signed an enlightened consent.\n\nInclusion criteria for patients\n\n* Individuals with health insurance.\n* Patients treated at Necker hospital with PIDs and autoimmunity\u002Finflammation related to known genetic defects (cytopenia, Enteropathy Inflammatory bowel disease (IBD), Systemic Lupus Erythematosus (SLE), Juvenile Idiopathic Arthritis (JIA), Familial Hemophagocytic Lymphohistiocytosis (FHL), chronic EBV infection associated (Ca-EBV) with EBV-infected T and\u002For Natural Killer (NK) cells and with a high risk to develop macrophage activation syndrome similar to FHL. See table below for diagnosis inclusion criteria.\n* Individuals aged\\\u003C18 y\u002Fo.\n* Individuals \\> 9 kg\n* Patients whose parents have signed an enlightened consent.\n\nExclusion Criteria:\n\n* Intake of antibiotics within 2 weeks prior inclusion\n* Absence of parent's or child consent form\n* Cytotoxic cancer treatments\n* antiviral treatments (HIV, hepatitis …)\n* Short term life-threatening conditions\n* Individuals placed under judicial protection","1 Year","18 Years",{"count":69,"type":22},500,"The main objective of this study is to generate diagnosis and therapeutic-decision tools through the identification of molecular causes of PIDs with autoimmunity\u002Finflammation and the variability in disease outcome at the transcriptional level using a combination of omics signatures (transcriptomics, epigenomics, proteomics, metagenomics, metabolomics and lipidomics).",[72,73,74,75,76,77,78,79,80,81,82,83,84,85,29,86,87,88,89,90],"Autoimmune Lymphoproliferative Syndrome","Autoimmune Cytopenia","Autoimmune Diseases","Autoimmune Anemia","Autoimmune Thrombocytopenia","Autoimmune Hepatitis","Autoimmune Diabetes","Autoimmune Rheumatologic Disease","Systemic Lupus Erythematosus","Juvenile Idiopathic Arthritis","Hemophagocytic Lymphohistiocytoses","EBV Lymphoproliferation","RAS-Associated Autoimmune Leucoproliferative Disease","Primary Immunodeficiency","IPEX","BENTA","Enteropathy, Autoimmune","Combined Immunodeficiency","IBD","2025-09-02",{"date":93,"type":42},"2025-09-08",{"date":95,"type":42},"2021-09-07",{"date":97,"type":22},"2026-06",{"name":99,"class":100},"Institut National de la Santé Et de la Recherche Médicale, France","OTHER_GOV"]