An observational study in Primary Immunodeficiency, DOCK8 and Virus Susceptibility, sponsored by National Institute of Allergy and Infectious Diseases (NIAID). Enrolling by invitation at 1 site in United States. Open to participants aged 2 Years to 85 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-10-27.
Sponsored by National Institute of Allergy and Infectious Diseases (NIAID) · Observational
Background:
Objectives:
Eligibility:
Design:
This protocol is designed as an adjunct to other National Institutes of Health (NIH) IRB approved protocols that allow for genetic testing, which may include those that are screening protocols for patients with rare primary immunodeficiency or immunodysregulation disorders. Patients deemed of sufficient research interest after review of outside medical records, clinical evaluation, and testing, may be invited to participate in this study. Healthy volunteers and relatives of patients will also be invited to participate as a source of control samples for research testing. After consent and enrollment into this study, skin punch biopsies will be obtained to establish dermal fibroblast cell lines for research studies directed at understanding the genetic and biochemical bases of these diseases. Cell lines will also be used to investigate the utility of induced pluripotent stem cells (iPS) for lymphocyte derivation and targeted gene correction. The nasal epithelial scrapings will be used for research purposes to grow out primary nasal respiratory epithelial cell lines. These cell lines will be used for functional studies by testing virus replication in them. These functional studies will allow us to identify new primary immunodeficiencies that may present primarily as recurrent or persistent lower respiratory tract virus infections. Results with the potential to impact medical care will be relayed to the referring physicians and where applicable patients will be referred to other appropriate NIH protocols for additional clinical evaluation and treatment.
The study will enroll up to 200 patients and healthy volunteers over the next 27 years.
211 studies on the registry are indexed under Primary Immunodeficiency Diseases; 51 are open to participants now.
This study's planned enrollment of 200 is above the median of 137 across 77 observational studies indexed under Primary Immunodeficiency Diseases.
Browse Primary Immunodeficiency Diseases studies →National Institute of Allergy and Infectious Diseases (NIAID) is the lead sponsor of 2,446 studies on the registry; 179 are open to participants now.
Of its 405 completed or terminated interventional studies of FDA-regulated products, 302 (75%) have results posted.
Counted across the registry records on this site, refreshed daily.
Up to 150 patients with poorly defined, rare inherited immunodeficiency or immunodysregulation disorders, and up to 50 healthy volunteers as controls. Patients and healthy volunteers, who are first evaluated under another NIAID protocol (such as 05-I-0213 or 06-I-0015) and others, may be offered the opportunity to participate in this protocol.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Patients:
Patient Relative: To be enrolled in this study, a patient relative must be:
A biological relative of a participant being studied under this protocol. Relatives may be biological mother, father, sibling, children, grandparents, aunts, uncles and first cousins.
a. A minor relative of the proban participant must demonstrate that they are asymptomatic carriers or are at risk for the disease
Healthy Volunteers:
To be enrolled in this study, a normal volunteer must fulfill all of the following criteria:
EXCLUSION CRITERIA:
Patients or the Patient Relative are not eligible to be in this trial if::
A Healthy Volunteer is not eligible to be in this trial if they:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
The human immunodeficiency virus, which weakens the immune system.
Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.
The protein in red blood cells that carries oxygen. A low level is anaemia, which can cause tiredness and breathlessness. Measured in g/dL or g/L (9 g/dL is 90 g/L).
Blood tests of how long blood takes to clot. The INR is the prothrombin time (PT) put on a common scale; about 1 is usual for someone not taking a blood thinner.
Criteria often make an exception for people on a blood thinner such as warfarin, whose INR is raised on purpose.
Platelets
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Biopsy and archival tissue
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Cancer (malignancy)
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
HIV
The human immunodeficiency virus, which weakens the immune system.
Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Hemoglobin (Hb)
The protein in red blood cells that carries oxygen. A low level is anaemia, which can cause tiredness and breathlessness. Measured in g/dL or g/L (9 g/dL is 90 g/L).
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
INR, PT and aPTT (clotting tests)
Blood tests of how long blood takes to clot. The INR is the prothrombin time (PT) put on a common scale; about 1 is usual for someone not taking a blood thinner.
Criteria often make an exception for people on a blood thinner such as warfarin, whose INR is raised on purpose.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Up to 50 subjects as healthy controls
Up to 150 subjects with poorly defined, rare inherited immunodeficiency or immunodysregulation disorders
Generate fibroblast, dermal, or other skin-resident cell lines
Obtain skin punch biopsies to generate fibroblast, dermal, or other skin-resident cell lines in patients who previously underwent HSCT. Cells may also be used for somatic cell hybridization, cell complementation, assessing fibroblast-specific innate immune responses, or other genetic techniques.
Time frame: Over the lifetime of the study
Plan to share: No — There isn't any data generated on this study that is relevant or shareable to any individual participant. Data obtained from iPS line growth is not medically actionable and therefor will not be reported back or shared with the participant.
Started Jun 2009 (actual).
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
No contact was published for this record. The registry link below has the sponsor’s details.
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