An observational study in Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID) and Leukocyte Adhesion Deficiency 1 (LAD), sponsored by National Institute of Allergy and Infectious Diseases (NIAID). Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2026-11-09.
Sponsored by National Institute of Allergy and Infectious Diseases (NIAID) · Observational
This study will evaluate patients with abnormal immune function that results in recurrent or unusual infections or chronic inflammation. This may include inherited conditions, such as X-linked severe combined immunodeficiency (XSCID), chronic granulomatous disease (CGD), and leukocyte adhesion deficiency (LAD), or conditions resulting from outside factors, such as graft-versus-host disease (GVHD). The information from this study will be used to establish the pattern and pace of change of the disease and to help develop new treatments. The period of observation and study following enrollment in this study may be for up to one year. In addition these studies may provide the medical information needed to determine eligibility for enrollment in other clinical study protocols and more prolonged follow up.
Patients of any age with abnormal immune function who have recurrent or unusual infections, whose blood tests show evidence of immune dysfunction, or who have GVHD, XSCID, CGD or LAD may be eligible for this study. Patients' parents, siblings, grandparents, children, aunts, uncles and first cousins of any age also may be included. Healthy normal volunteers between 18 and 85 years of age are recruited as controls.
Normal volunteers undergo a physical examination and provide blood, saliva, and urine samples for immune function studies. Patients' family members provide a medical history, have a physical examination, and give blood and urine samples, and possibly a saliva sample. The samples are used for genetic and routine laboratory studies. Investigators may request tissue samples, such as biopsy specimens, previously removed for medical reasons to be sent to NIH for study. Patients undergo the following tests and procedures:
Follow-up visits of patients with immune problems may occur at 6 months and at one year after the first visit (or more frequently if medically required) to include:
This protocol is designed for the screening and baseline assessment of and collection of research samples from patients with abnormalities of immune function as manifested by recurrent or unusual infections, recurrent or chronic inflammation, or previous laboratory evidence of immune dysfunction. After baseline assessments are complete, participants will remain on study to allow long-term assessments of the natural course of their condition. Abnormalities of immune function may be inherited or may be iatrogenic such as that following hematopoietic stem cell transplantation or other treatments resulting in prolonged immune dysfunction. Blood and/or bone marrow cells may also be used to investigate the utility of induced pluripotent stem cells (iPS) for immune cell derivation and targeted gene correction. This is not a protocol to study or screen for human immunodeficiency virus (HIV) infection, though patients with HIV infection who may have other causes for immune dysfunction are not excluded. First-, second-, or third-degree genetically related family members (limited to mother, father, siblings, grandparents, children, aunts, uncles, and first cousins of an affected patient) may also be screened for clinical, in vitro, and genetic correlates of immune abnormalities. Healthy Volunteers will be enrolled as a source of control blood samples for research testing, not to include genetic testing. Patients with documented immune dysfunction may receive limited medically indicated treatment if that medically indicated treatment is related to the abnormality of immune function under study. Results of clinically indicated diagnostic evaluations and treatments performed outside of this protocol may be collected for research use as part of this study. When screening and assessment is complete, patients will be offered an opportunity to participate in another study, or if there are no active studies appropriate for the patient, other options will be suggested to the primary or referring physician. Regardless of whether the patient enrolls on another NIH study, they will remain on this study for long-term follow-up of their condition.
This protocol will allow detailed long-term investigation of patients with abnormalities of immune function with the following goals:
The assessments performed under this protocol are necessary to discover new causes of immune abnormalities, to delineate epidemiology of immune deficiencies, to develop new diagnostic and therapeutic tools, and to determine a patient s eligibility for other studies.
79 studies on the registry are indexed under Granulomatous Disease, Chronic; 17 are open to participants now.
This study's planned enrollment of 3,500 is above the median of 150 across 16 observational studies indexed under Granulomatous Disease, Chronic.
Browse Granulomatous Disease, Chronic 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.
The criteria were revised on the registry on Nov 9, 2026. See what changed
Self referred, Physician referred
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:
To be eligible to participate in this study as a patient, an individual must meet the following criteria:
Have an abnormality of immune function as manifested by:
Relatives of Patient:
To be eligible to participate in this study as a patient relative, an individual must meet the following criteria:
Be a biological mother, father, sibling, child, grandparent, aunt, uncle, or first cousin to a patient.
--Sibling, child, first cousin, aunt, and uncle must be 2 years of age to be seen at the Clinical Center as an outpatient with no active infections, Send-in samples for clinical diagnosis at any age.
Healthy Volunteers:
To be eligible to participate in this study as a healthy volunteer, an individual must meet the following criteria:
Adult Subjects Who Lack Capacity to Consent to Research Participation
Adults who are unable to consent are included in this protocol because they are necessary to answer important scientific questions about abnormalities of immune function. For example, CGD patients can develop neurologic deficits leading to cognitive impairment from infections affecting the brain or from genetic mutations associated with CGD, like McLeod Syndrome. Similar cognitive impairments can occur with other primary immunodeficiencies as well. Excluding these participants from this study would limit our ability to understand these disorders, their association with the immune defect, and to develop therapeutic interventions. We will not be enrolling the other cohorts "Relatives of Patient" or "Healthy Volunteers" who are unable to consent.
EXCLUSION CRITERIA:
Patients and Relatives of Patient:
In general, there are no strict exclusion criteria for these cohorts. However, the presence of certain types of acquired abnormalities of immunity solely due to , chemotherapeutic agent(s), or an underlying could be grounds for possible exclusion for a patient or relative of a patient. 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.
Healthy Volunteers (Who are not Relatives):
An individual who meets any of the following criteria will be excluded from participation as a healthy volunteer in this study:
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.
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).
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.
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.
Hepatitis B is a virus that infects the liver. These are separate tests: HBsAg positive usually means a current infection (a recent vaccination can briefly cause it too); total anti-HBc (HBcAb) positive means an infection now or in the past; HBV DNA measures how much virus is in the blood.
Some studies accept a past infection if HBV DNA is undetectable, sometimes with antiviral medicine during the study. Check what this study allows.
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.
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.
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.
Hepatitis B tests
Hepatitis B is a virus that infects the liver. These are separate tests: HBsAg positive usually means a current infection (a recent vaccination can briefly cause it too); total anti-HBc (HBcAb) positive means an infection now or in the past; HBV DNA measures how much virus is in the blood.
Some studies accept a past infection if HBV DNA is undetectable, sometimes with antiviral medicine during the study. Check what this study allows.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Healthy adult M/F 18-85 y/o.Hgb\>=11.Wt\>110 lbs. No heart,lung,kidney,bleeding disorders. No hep BorC since age 11. No IV drug use. No exposure to the AIDS virus. Not pregnant.
Patients with abnormalities of immune function
Relatives may be mother, father, siblings, children, grandparents, aunts, uncles, and first cousins to a patient.
To establish the pattern and pace of change of disease (frequency, distribution, type and extent of infections, inflammatory lesions and abnormalities of immune function) during a period of up to one year baseline assessment.
Identification pregression and pattern of disease over time
Time frame: ongoing throughout study
To establish the extent of organ involvement (infection and/or inflammation) and organ damage or dysfunction resulting from the abnormality of immune function.
Identification of severity of disease as it relates to immune function in PID
Time frame: ongoing throughout study
To determine genetic linkage and biochemical correlates of the patient s abnormality of immunity by study of first-, second-, or third-degree related family members blood cells (buccal smears instead of blood for genetic studies in some ind...
Identification of genetic links and biochemical correlates of PID to clinical manifestations
Time frame: ongoing throughout study
To characterize the physiologic, biochemical or genetic basis of the abnormality of immunity.
Identification of the pathophysiology and genetic basis of abnormalities of immune function under study
Time frame: ongoing throughout study
To establish a baseline assessment of the pace and extent of the disease before entering a therapeutic clinical trial.
Identification of best time with respect to disease process to place pts on a treatment protocol
Time frame: ongoing throughout study
To determine a patient s eligibility for other studies.
Patient recruitment to treatment protocols
Time frame: ongoing throughout study
To assess the patient s ability to safely tolerate specific aspects of other diagnostic or therapeutic research protocols.
Patients tolerate treatment for PID disease
Time frame: ongoing throughout study
Started Sep 2005 (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.
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Granulomatous Disease, Chronic →
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