[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"primary-immunodeficiency\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:primary-immunodeficiency":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,6,0,[8,49,75,102,125,166],{"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":29,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":43,"leadSponsor":45,"locationsCount":48},"100301592","niaid-centralized-sequencing-protocol-100301592",false,"NCT03206099","NIAID Centralized Sequencing Protocol","* PARTICIPANT INCLUSION CRITERIA:\n* Must fulfill one of the following criteria:\n\n  * Proband participants: must be individuals under investigation by another NIH protocol on which they are co-enrolled, or are referred from the GDMCC protocol \"Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults\" (NCT04702243). Probands may have a disease under investigation or be healthy volunteers\n  * Biological relatives: biologically related to a proband participant.\n* Aged 0-99 years.\n* Participants must be willing to undergo genetic testing.\n* Participants must be willing to allow samples to be stored for future research.\n* Participants must be willing to have their de-identified genomic data shared, for example in a controlled access databases like the Database of Genotypes and Phenotypes (dbGaP).\n* To complete surveys and interviews:\n\n  * Proficient with the English language.\n  * Able to provide informed consent.\n* Adult healthy volunteers must be able to provide informed consent.\n\nPARTICIPANT EXCLUSION CRITERIA:\n\nAny condition that, in the opinion of the investigator, contraindicates participation in this study is a reason for exclusion.",true,"ALL","1 Day","100 Years",{"count":20,"type":21},20000,"ESTIMATED","OBSERVATIONAL","Background:\n\nGenetic testing called \"sequencing\" helps researchers look at DNA. Genes are made of DNA and are the instructions for our bodies to function. We all have thousands of genes. DNA variants are differences in genes between two people. We all have lots of variants. Most are harmless and some cause differences like blue or brown eyes. A few variants can cause health problems.\n\nObjective:\n\nTo understand the genetics of immune disorders various health conditions, as well as outcomes of clinical genomics and genetic counseling services performed under this protocol.\n\nEligibility:\n\nParticipants in other NIH human subjects research protocols - either at the NIH Clinical Center (CC) or at Children s National Health System (CNHS) - (aged 0-99 years), and, in select cases, their biological relatives\n\nDesign:\n\nResearchers will study participant s DNA extracted from blood, saliva, or another tissue sample, including previously collected samples we may have stored at the NIH. Researchers will look at participant s DNA in great detail. We are looking for differences in the DNA sequence or structure between participants and other people.\n\nParticipants will receive results that:\n\n* Are important to their health\n* Have been confirmed in a clinical lab\n* Suggest that they could be at risk for serious disease that may affect your current or future medical management.\n\nSome genetic information we return to participants may be of uncertain importance.\n\nIf genetic test results are unrelated to the participant s NIH evaluations, then we will not typically report:\n\n* Normal variants\n* Information about progressive, fatal conditions that have no effective treatment\n* Carrier status (conditions you don t have but could pass on)\n\nThe samples and data will be saved for future research.\n\nPersonal data will be kept as private as possible.\n\nIf future studies need new information, participants may be contacted.",[25,26,27,28],"Atopy","Primary Immunodeficiency","Autoimmunity","Autoinflammation",[30,31,32,33,34,35],"Phenotyping","Genetics","Sequencing","Inborn Errors of Immunity","Genomics","Natural History","RECRUITING","2026-07-01",{"date":39,"type":40},"2026-07-02","ACTUAL",{"date":42,"type":40},"2017-07-31",{"date":44,"type":21},"2029-12-31",{"name":46,"class":47},"National Institute of Allergy and Infectious Diseases (NIAID)","NIH",2,{"id":50,"slug":51,"hasResults":11,"nctId":52,"briefTitle":53,"officialTitle":53,"acronym":4,"eligibilityCriteria":54,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":55,"enrollmentInfo":56,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":58,"conditions":59,"keywords":60,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":66,"lastUpdatePostDateStruct":67,"startDateStruct":69,"completionDateStruct":71,"leadSponsor":73,"locationsCount":74},"100332632","send-in-sample-collection-to-achieve-genetic-and-immunologic-characterization-of-primary-immunodeficiencies-100332632","NCT03610802","Send-In Sample Collection to Achieve Genetic and Immunologic Characterization of Primary Immunodeficiencies","* INCLUSION CRITERIA:\n\nParticipants enrolled onto this protocol must meet all of the following criteria:\n\n1. Age 0-99 years.\n2. Meets 1 of the following criteria:\n\n   1. Patient with a clinical diagnosis of a form of PID (either known or suspected). PID may be defined by laboratory and\u002For clinical findings on 2 or more occasions that are consistent with a defect in innate or adaptive immunity. Specific PIDs are defined by the guidelines of the International Union of Immunological Societies.\n   2. Biological relative of an individual meeting criterion 2a, with no clinical evidence of having a PID. Relatives may be mother, father, siblings, children, grandparents, aunts, uncles, or first cousins to an individual with a known or suspected PID.\n3. Able to provide informed consent.\n4. Willing to allow genetic testing and allow biospecimens to be modified into induced pluripotent stem (iPS) cells.\n5. Willing to allow storage of samples and data for future research.\n\nEXCLUSION CRITERIA:\n\nIndividuals meeting any of the following criteria will be excluded from study participation:\n\n1. History of secondary causes of immunodeficiency (eg, HIV infection, immunodeficiency from chronic use of immunosuppressive or chemotherapeutic agents), at the discretion of the investigator.\n2. Any condition that, in the opinion of the investigator, contraindicates participation in this study.\n\nINCLUSION\u002FEXCLUSION OF SPECIAL POPULATIONS:\n\nChildren: Children are eligible to participate in this study because PIDs may present in early childhood and results of some research tests may inform participants future medical care. Additionally, the study poses no more than minimal risk.\n\nPregnant women and neonates: Pregnant women can participate in this study. Research testing on samples from pregnant women may help us learn about changes in the immune systems of immunodeficient patients during pregnancy, which is important knowledge that could not be obtained from nonpregnant individuals. Research testing of pregnant women with known or suspected PIDs could provide insight into the fetus s health risks, which may help guide clinical management during and after pregnancy. We may request cord blood samples at delivery to process right away or freeze. Cord blood is a unique source of stromal cells that may be characterized or modified for research purposes. Additionally, this study poses no more than minimal risk, including to participants who are pregnant and their fetuses. Similarly, neonates (including nonviable neonates or those of uncertain viability) may be enrolled in this study as it does not involve more than minimal risk and blood volumes will be limited based on the clinical status of each participant. Each individual providing consent will be fully informed regarding the reasonably foreseeable impact of the research on the neonate, and individuals engaged in the research will have no part in determining the viability of a neonate. Further, neonates of uncertain viability are eligible because all the following criteria are met:\n\n* Many PIDs are rare and present early in life, and it is possible that the manifestations of a known or suspected PID may impact the viability of the neonate. Research testing of neonates with known or suspected PIDs could provide insight into current and future health risks, which may provide guidance for medical management and thus benefit the neonate and possibly enhance the probability of survival.\n* The only risks of study participation are the risks of blood draw. When possible, blood for this study will be collected at the time of clinically indicated blood draws so that there is no additional needlestick, and blood volumes will be limited based on the clinical status of each participant. Collection of blood is the only possible method to conduct the research testing under this protocol that may directly benefit the neonate by revealing insights about health risks and medical management. Thus, the risk is the least possible for achieving that objective.\n* The legally effective informed consent of either parent of the neonate or, if neither parent is able to consent because of unavailability, incompetence, or temporary incapacity, the legally effective informed consent of either parent's legally authorized representative is obtained, except that the consent of the father or his legally authorized representative need not be obtained if the pregnancy resulted from rape or incest.\n\nNonviable neonates are also eligible because all the following criteria are met:\n\n* Vital functions of the neonate will not be artificially maintained.\n* The research will not terminate the heartbeat or respiration of the neonate.\n* Blood will only be collected from nonviable neonates at the time of clinically indicated blood draws so that there is no additional needlestick, and blood volumes will be limited based on the clinical status of each participant. Therefore, there will be no added risk to the neonate resulting from the research.\n* As described above, many known or suspected PIDs are rare and can present early during life, and it is possible that their manifestations may impact the viability of the neonate. This protocol aims to achieve characterization of such disorders, and this aim could not be achieved for certain disorders if nonviable neonates are excluded. Thus, the purpose of the research is the development of important biomedical knowledge that cannot be obtained by other means.\n* The legally effective informed consent of both parents of the neonate will be obtained.\n\nDecisionally impaired adults: Adults who are unable to consent are excluded from study participation. Enrolled participants who temporarily lose the ability to consent during study participation may continue in the study in accordance with NIH Human Research Protections Program (HRPP) Policy 403 Research with Subjects Lacking Capacity to Consent; the study poses no more than minimal risk and may hold a prospect of direct benefit as results of some research tests may inform participants future medical care. However, enrolled participants who permanently lose the ability to consent during study participation will be withdrawn.","99 Years",{"count":57,"type":21},3000,"Background:\n\nThe immune system helps the body fight infections. Primary immunodeficiency disorders (PIDs) are diseases that make it easier for people to get sick. Many PIDs are inherited. This means parents can pass them on to their children. Knowing what causes a person s PID is important to decide what treatment to give them.\n\nObjective:\n\nTo test samples from people with a PID or people related to someone with a PID to find out what causes PIDs.\n\nEligibility:\n\nPeople ages 99 or younger who have a PID or have a relative with a PID\n\nDesign:\n\nParticipants will be screened with a medical history over the phone. They may need to give permission for researchers talk to their doctors about their health. Their relatives may be contacted to see if they want to join the study.\n\nParticipants will give samples. These could be:\n\nBlood: Participants blood will be taken from a vein in an arm, or with a prick on the finger or heel for children.\n\nSaliva, urine, or stool: Participants will provide each sample in a special cup.\n\nNose or cheek swab: Participants will rub the skin inside their nose or cheek using a cotton swab.\n\nCord blood: If participants have a baby during the study, blood will be collected from the baby s umbilical cord after it is born.\n\nSamples from medical procedures: If, during the study, the participants have a medical procedure that collects samples, the samples may be used for the study.",[26],[61,62,63,64,65,35],"Immunophenotyping","Functional Assays","Repository","HLA-Typing","Next Generation Sequencing","2026-06-23",{"date":68,"type":40},"2026-06-24",{"date":70,"type":40},"2019-07-22",{"date":72,"type":21},"2038-03-31",{"name":46,"class":47},3,{"id":76,"slug":77,"hasResults":11,"nctId":78,"briefTitle":79,"officialTitle":80,"acronym":4,"eligibilityCriteria":81,"healthyVolunteers":15,"sex":16,"minAge":82,"maxAge":83,"enrollmentInfo":84,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":86,"conditions":87,"keywords":91,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":93,"lastUpdatePostDateStruct":94,"startDateStruct":96,"completionDateStruct":98,"leadSponsor":100,"locationsCount":101},"100428886","metabolic-profiling-of-immune-responses-in-immune-mediated-diseases-100428886","NCT04864886","Metabolic Profiling of Immune Responses in Immune-mediated Diseases","Metabolic Profiling of Immune Responses in Immune-Mediated Diseases","* INCLUSION CRITERIA:\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\n1. Meets one of the following:\n\n   1. Has documentation of PID confirmed by genetic evaluation demonstrating a deleterious variant in the gene (or genes) known to be associated with immune deficiency (confirmed PID); or\n   2. Has documented variant of undetermined significance in a gene (or genes) that is predicted to be deleterious in immune function by the investigators OR a clinical history of infections which are more frequent, more chronic, or more severe than normal (suspected PID); or\n   3. Has physician-diagnosed psoriasis; or\n   4. Has physician-diagnosed AD; or\n   5. Does not have clinically apparent evidence of any monogenic or digenic immune defect, AD, or psoriasis (healthy volunteers).\n2. Aged 18 to 75 years.\n3. Willing to allow storage of blood, biopsy tissue, bacterial and fungal cultures, and any other samples collected for future research.\n4. Able to provide informed consent.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n1. Current or prior (within 3 months) anticoagulant or anti-platelet therapy (other than aspirin or non-steroidal anti-inflammatory drugs).\n2. Current or prior (within 3 months) use of immunomodulatory drugs (eg, chemotherapy, steroids), except if approved by the principal investigator.\n3. History of keloid formation.\n4. Pregnancy, lactating, or breastfeeding.\n5. Any condition that, in the opinion of the investigator, contraindicates participation in the study.\n\nCo-enrollment guidelines: Participants may be co-enrolled in other studies; however, study staff should be notified of co-enrollment.","18 Years","75 Years",{"count":85,"type":21},300,"Background:\n\nThe immune system is the part of the body that fights infection. Some people have immune deficiencies that cause skin rashes, make them get sick often with infections, or make it difficult for their skin to heal. Researchers want to learn more to better treat conditions that affect immune response.\n\nObjective:\n\nTo learn about how the immune system and skin healing are related to each other.\n\nEligibility:\n\nPeople ages 18-75 with primary immune deficiency, eczema, or psoriasis. Healthy volunteers are also needed.\n\nDesign:\n\nParticipants will be screened with a medical and medicine history and a physical exam. They may take a pregnancy test.\n\nParticipants will discuss the medicines or supplements they take as well as skin products they use, such as soaps and lotions.\n\nParticipants will have up to 4 skin biopsies taken from the forearm. A needle will inject an anesthetic into the skin where the biopsy will be done. A sharp tool that looks like a tiny cookie cutter will be used to remove a round plug of skin a bit smaller than the tip of a pencil.\n\nParticipants will give at least 1 blood sample.\n\nParticipants may have optional skin swab collection. A cotton swab will be used to swab the skin on the arm.\n\nParticipants may have optional skin tape collection. A sticky strip of tape will be placed on the arm and then removed.\n\nParticipants may give leftover samples taken as part of their regular medical care.\n\nParticipation will last for about 4 days. Participants will have 2 visits that each last about 1 hour. They may be asked to repeat the study in the future.",[26,88,89,90],"Psoriasis","Atopic Dermatitis","Immune-mediated Diseases",[26,88,89,92,35],"pathways","2026-05-28",{"date":95,"type":40},"2026-05-29",{"date":97,"type":40},"2021-08-10",{"date":99,"type":21},"2027-06-30",{"name":46,"class":47},1,{"id":103,"slug":104,"hasResults":11,"nctId":105,"briefTitle":106,"officialTitle":107,"acronym":4,"eligibilityCriteria":108,"healthyVolunteers":11,"sex":16,"minAge":109,"maxAge":82,"enrollmentInfo":110,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":112,"conditions":113,"keywords":4,"overallStatus":114,"whyStopped":4,"lastUpdateSubmitDate":115,"lastUpdatePostDateStruct":116,"startDateStruct":118,"completionDateStruct":120,"leadSponsor":122,"locationsCount":4},"100613089","quality-of-life-among-children-with-inborn-error-of-immunity-100613089","NCT07262047","Quality of Life Among Children With Inborn Error of Immunity","Characterization and Health Related Quality of Life Among Children With Inborn Error of Immunity","Inclusion Criteria:\n\n* children from 6 years untill 18 years\n\nExclusion Criteria:\n\n* failed to get a consent not appropriate age","6 Years",{"count":111,"type":21},50,"In this study, we aim to assess the QOL of pediatric IEI patients compared with healthy controls and to determine different factors affecting QOL in these patients.",[26],"NOT_YET_RECRUITING","2025-11-22",{"date":117,"type":40},"2025-12-03",{"date":119,"type":21},"2025-12-01",{"date":121,"type":21},"2026-10-10",{"name":123,"class":124},"Sohag University","OTHER",{"id":126,"slug":127,"hasResults":11,"nctId":128,"briefTitle":129,"officialTitle":129,"acronym":130,"eligibilityCriteria":131,"healthyVolunteers":11,"sex":16,"minAge":132,"maxAge":82,"enrollmentInfo":133,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":135,"conditions":136,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":156,"lastUpdatePostDateStruct":157,"startDateStruct":159,"completionDateStruct":161,"leadSponsor":163,"locationsCount":101},"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",{"count":134,"type":21},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).",[137,138,139,140,141,142,143,144,145,146,147,148,149,26,150,151,152,153,154,155],"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","APECED","IPEX","BENTA","Enteropathy, Autoimmune","Combined Immunodeficiency","IBD","2025-09-02",{"date":158,"type":40},"2025-09-08",{"date":160,"type":40},"2021-09-07",{"date":162,"type":21},"2026-06",{"name":164,"class":165},"Institut National de la Santé Et de la Recherche Médicale, France","OTHER_GOV",{"id":167,"slug":168,"hasResults":11,"nctId":169,"briefTitle":170,"officialTitle":171,"acronym":4,"eligibilityCriteria":172,"healthyVolunteers":11,"sex":16,"minAge":109,"maxAge":82,"enrollmentInfo":173,"targetDuration":4,"studyType":175,"phases":176,"briefSummary":178,"conditions":179,"keywords":180,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":186,"lastUpdatePostDateStruct":187,"startDateStruct":189,"completionDateStruct":191,"leadSponsor":193,"locationsCount":101},"100523200","investigation-of-the-effects-of-pulmonary-rehabilitation-in-children-with-primary-immunodeficiency-100523200","NCT06092528","Investigation of the Effects of Pulmonary Rehabilitation in Children With Primary Immunodeficiency","Investigation of the Effects of Pulmonary Rehabilitation on Exercise Capacity, Muscle Oxygenation and Physical Activity Level in Children With Primary Immunodeficiency","Inclusion Criteria:\n\n-Patients aged 6-18 years with primary immunodeficiency\n\nExclusion Criteria:\n\n* Acute pulmonary exacerbation, acute upper or lower respiratory tract infection\n* Serious neurological, neuromuscular, orthopedic and other systemic diseases or other diseases affecting physical functions\n* Participating in a planned exercise program in the past three months\n* Cognitive impairment, which may cause difficulty understanding and following exercise test instructions",{"count":174,"type":21},40,"INTERVENTIONAL",[177],"NA","Primary immunodeficiencies (PID) are a heterogeneous group of diseases that occur as a result of disorders that affect the development, differentiation and\u002For function of various cells and building blocks in the immune system. Among the symptoms and complications of PID, pulmonary complications are very common and significantly increase the morbidity and mortality of the disease.",[26],[181,182,183,184,185],"primary immunodeficiency","pulmonary rehabilitation","exercise capacity","muscle oxygenation","physical activity","2023-12-03",{"date":188,"type":40},"2023-12-05",{"date":190,"type":40},"2023-11-01",{"date":192,"type":21},"2026-09-20",{"name":194,"class":124},"Gazi University"]