[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"primary-immune-deficiencies\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:primary-immune-deficiencies":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,44],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":15,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":27,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":4,"leadSponsor":40,"locationsCount":43},"100149894","studies-of-disorders-with-increased-susceptibility-to-fungal-infections-100149894",false,"NCT01222741","Studies of Disorders With Increased Susceptibility to Fungal Infections","* INCLUSION CRITERIA:\n\nPatients\n\nTo be eligible to participate in this study as a patient, an individual must meet the following criteria:\n\n* Be 2 years of age to be seen at the Clinical Center as an outpatient. Children \\\u003C=3 years of age must not have severe infections, as assessed by the investigator, to be seen at the Clinical Center. Send-in samples may be submitted by participants \\>30 days of age.\n* Have an abnormality of immune function as manifested by recurrent or unusual fungal infections, recurrent or chronic inflammation, or previous laboratory evidence of immune dysfunction. Of particular focus of this study are patients with:\n\n  * APECED\n  * CMC\n  * MPO\n  * IPEX\n  * Hyper-immunoglobulin E syndrome (Job s syndrome)\n  * CGD\n  * Biotinidase deficiency\n  * IKAROS defects\n  * AIOLOS defects\n  * IRF4 defects\n  * Other conditions showing increased susceptibility to such infections as described in infants and type 1 diabetic patients\n* Have a primary physician outside of the NIH.\n* Agree to have blood stored for future research.\n* Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document.\n\nRelatives\n\nTo be eligible to participate in this study as a relative, an individual must meet the following criteria:\n\n* Be 2 years of age to be seen at the Clinical Center as an outpatient. Children \\\u003C=3 years of age must not have severe infections, as assessed by the investigator, to be seen at the Clinical Center. Send-in samples may be submitted for participants \\>30 days of age.\n* Be a mother, father, sibling, child, grandparent, aunt, uncle, or first cousin to a patient participant.\n* Adult relatives must be able to provide informed consent.\n* Agree to have blood stored for future research.\n\nHealthy volunteers\n\nTo be eligible to participate in this study as a healthy volunteer, an individual must meet the following criteria:\n\n* Be 18 to 85 years old.\n* Have a hemoglobin count of \\>11 g\u002FdL.\n* Weigh \\>=110 pounds.\n* Be able to provide informed consent.\n* Be willing to have blood stored for future research.\n\nEXCLUSION CRITERIA:\n\nPatients and Relatives\n\nIn general, there are no strict exclusion criteria for these cohorts. However, the presence of certain types of acquired abnormalities of immunity solely due to HIV, chemotherapeutic agent(s), or an underlying malignancy could be grounds for possible exclusion for a patient or relative. In the opinion of the investigator, the presence of such disease processes may interfere with evaluation of a co-existing abnormality of immunity that is the subject of study under this protocol. Pregnant females will not be allowed to participate in any procedure that may be dangerous to the pregnancy or the fetus.\n\nHealthy volunteers\n\nAn individual who meets any of the following criteria will be excluded from participation as a healthy volunteer in this study:\n\n* Is receiving chemotherapeutic agent(s) or has an underlying malignancy.\n* Is pregnant.\n* Has a history of heart, lung, or kidney disease, or bleeding disorders.\n* Has HIV or viral hepatitis (B or C), or history of viral hepatitis B or C since age 11.",true,"ALL","18 Years","85 Years",{"count":20,"type":21},850,"ESTIMATED","OBSERVATIONAL","Background:\n\n\\- Researchers are interested in studying disorders that make individuals more susceptible to fungal infections, specifically infections with the Candida yeast. These disorders are often related to problems with the immune system and may have genetic factors, which suggests that researchers should study not only the individual with the disorder, but also his or her first- and second-degree relatives (such as parents, siblings, children, and first cousins). To provide material for future research, individuals with immune disorders and their first- and second-degree relatives will be asked to provide blood and other samples for testing and comparison with samples taken from healthy volunteers with no history of immune disorders.\n\nObjectives:\n\n\\- To collect blood and other biological samples to study immune disorders that make individuals more susceptible to fungal infections.\n\nEligibility:\n\n* Individuals of any age who have abnormal immune function characterized by recurrent or unusual fungal infections, recurrent or chronic inflammation, or other types of immune dysfunction.\n* First- or second-degree genetically related family members (limited to mother, father, siblings, grandparents, children, aunts, uncles, and first cousins).\n* Healthy volunteers at least 18 years of age (for comparison purposes).\n\nDesign:\n\n* Participants will provide blood samples and buccal (cells from the inside of the mouth near the cheek) samples.\n* Participants with immune disorders will also be asked to provide urine samples, saliva or mucosal samples, or skin tissue biopsies, and may also have imaging studies (such as x-rays) to collect information for research.\n* Samples may be collected at the National Institutes of Health or at other clinical locations for the samples to the sent to the National Institutes of Health.\n* No treatment will be provided as part of this protocol.",[25,26],"Fungal Infections","Primary Immune Deficiencies",[28,26,29,30,31,32],"PID","Candida","Immune Abnormalities","Diabetic","Natural History","RECRUITING","2026-06-23",{"date":36,"type":37},"2026-06-24","ACTUAL",{"date":39,"type":37},"2011-01-07",{"name":41,"class":42},"National Institute of Allergy and Infectious Diseases (NIAID)","NIH",1,{"id":45,"slug":46,"hasResults":11,"nctId":47,"briefTitle":48,"officialTitle":49,"acronym":50,"eligibilityCriteria":51,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":52,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":54,"conditions":55,"keywords":57,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":64,"lastUpdatePostDateStruct":65,"startDateStruct":67,"completionDateStruct":69,"leadSponsor":71,"locationsCount":4},"100633440","longitudinal-prognosis-of-lymphoproliferative-manifestations-in-primary-immunodeficiencies-100633440","NCT07526714","Longitudinal Prognosis of Lymphoproliferative Manifestations in Primary Immunodeficiencies","Descriptive Study of Baseline Features and Longitudinal Prognosis of Lymphoproliferative Manifestations in Primary Immunodeficiencies","PID-LP","Inclusion Criteria:\n\n* Diagnosis of primary immunodeficiency (inborn error of immunity) according to ESID criteria\n* Presence of systemic lymphoproliferative manifestations (e.g., persistent lymphadenopathy, splenomegaly, lymphoma) and\u002For organ involvement attributable to lymphocytic or granulomatous infiltration\n* Diagnosis of lymphoproliferative manifestation between January 1, 2014 and December 31, 2025\n* Minimum follow-up of 12 months after diagnosis of lymphoproliferative manifestation\n* Followed in one of the participating centers\n\nExclusion Criteria:\n\n* Secondary immunodeficiency (e.g., HIV infection, immunosuppression due to chemotherapy, solid organ transplantation, or other acquired causes)\n* Isolated reactive lymphadenopathy clearly attributable to acute infection without evidence of persistent lymphoproliferation\n* Insufficient clinical data available in medical records to assess baseline characteristics or outcomes\n* Follow-up duration \\\u003C 12 months after diagnosis of lymphoproliferative manifestation",{"count":53,"type":21},60,"Primary immunodeficiencies (PIDs) are a heterogeneous group of inborn errors of immunity characterized not only by increased susceptibility to infections but also by immune dysregulation. Among immune dysregulation manifestations, lymphoproliferative disorders represent a frequent and clinically challenging complication. These manifestations may involve secondary lymphoid organs (lymphadenopathy, splenomegaly) as well as extranodal organs such as lungs, liver, and gastrointestinal tract, often with lymphocytic and\u002For granulomatous infiltration. In some patients, lymphoproliferation may progress to lymphoma or other malignancies.\n\nDespite increasing knowledge about specific genetic subtypes of PIDs and the development of targeted therapies (e.g., PI3Kδ inhibitors, CTLA4 pathway modulation, mTOR inhibitors), the natural history and long-term prognosis of lymphoproliferative manifestations across unselected PID populations remain poorly defined. Most available studies focus on selected molecular subgroups or treatment responses, while real-world longitudinal data on broader PID cohorts are lacking.\n\nThe PID-LP study is a multicenter retrospective longitudinal study conducted in three tertiary care centers in France. It aims to describe the initial characteristics and long-term outcomes of patients with PIDs who develop lymphoproliferative manifestations.\n\nThe primary objective is to evaluate the occurrence of major clinical events during follow-up, defined as death (all causes), occurrence of lymphoma or other malignancy, or clinically significant organ dysfunction attributable to lymphoproliferation.\n\nSecondary objectives are to describe the longitudinal evolution of systemic lymphoproliferation (lymph node size, splenomegaly), the progression of organ involvement (pulmonary, hepatic, gastrointestinal), and to identify clinical, biological, genetic, radiological, and therapeutic factors at diagnosis that may predict major complications.\n\nApproximately 60 pediatric and adult patients diagnosed between 2014 and 2025 and followed for at least 12 months after diagnosis of lymphoproliferation will be included. Data will be retrospectively collected from medical records.\n\nThis study is expected to improve the understanding of prognosis and disease trajectories in PID-associated lymphoproliferation, inform follow-up strategies, and generate hypotheses for future prospective interventional studies.",[26,56],"Benign Lymphoproliferative Disorder",[58,59,60,61,62],"Primary Immunodeficiency","Inborn error of Immunity","Lymphoproliferation","Lymphadenopathy","Splenomegaly","NOT_YET_RECRUITING","2026-04-09",{"date":66,"type":37},"2026-04-13",{"date":68,"type":21},"2026-04-01",{"date":70,"type":21},"2029-03-31",{"name":72,"class":73},"Central Hospital, Nancy, France","OTHER"]