This study aims to understand the causes and progression of Common Variable Immunodeficiency (CVID) and related inborn errors of immunity (IEI). These are conditions where the immune system does not function properly, leading to frequent infections and other complications such as gastrointestinal inflammation, lung and liver disease, autoimmune conditions, and an increased risk of certain cancers. By studying patients with CVI and related immune disorders, we hope to develop better ways to diagnose, treat, and prevent complications associated with these conditions.
Patients diagnosed with CVID or related immune disorders must be referred by their physician and medical records reviewed by the study team to confirm eligibility to participate in this study. Once enrolled, participants will undergo various tests, including blood draws, physical exams, and imaging studies like CT scans to track changes over time. We may collect samples such as blood, urine, stool, or saliva for research purposes. If a surgical procedure or biopsy is performed because it is medically necessary, we may collect an additional sample for research testing. Family members of patients may be asked to provide blood samples for comparison. Some tests may be done remotely if participants or family members cannot travel to the study site.
Who Can Participate
* Patients diagnosed with CVI or related IEI, such as X-linked agammaglobulinemia, Blau Syndrome or Yao Syndrome. * Participants must be at least 2 years old. * Family members of patients may include parents, siblings, grandparents, children, aunts, uncles, and cousins. * Pregnant women already enrolled in the study will continue to participate, but new pregnant participants will not be enrolled.
Potential Risks and Benefits
* Risks: Blood draws may cause discomfort, bruising, or infection. Apheresis may cause dizziness, nausea, or muscle cramps; this procedure is to collect specific cells in the blood and is infrequently done on this protocol. Extra biopsies during clinically indicated procedures may increase the risk of complications; they will only be collected after the medically necessary biopsies are taken and if it is safe to collect any extra biopsies. * Benefits: Participants may not receive direct medical benefits, but the study will contribute to a better understanding of CVID and related conditions, potentially leading to improved treatments.
Must have a verifiable diagnosis of common variable immune deficiency as defined by a decrease both in IgG and at least one other Ig isotype to below two standard deviations of normal control levels OR B-cell immunodeficiencies related to CVI (defined as selective IgA deficiency, selective IgG isotype deficiency, agammaglobulinemia, and hypogammaglobulinemia associated with Epstein-Barr virus infection), or hypogammaglobulinemia associated with other related inborn errors of immunity. This includes patients with a defined diagnosis of Blau or Yao Syndrome.
Must be 2 years old or greater.
Patients with repeated infections and suspected of having an inborn error of immunity.
Patients must be referred by their primary medical care provider.
Presence of other medical illnesses that would preclude individuals from undergoing routine diagnostic testing or testing for immunologic features of immunodeficiency.
Presence of a condition or treatment, such as HIV, cytotoxic chemotherapy or malignancy, that in the investigator s opinion could interfere with evaluation of the condition under study.
Pregnancy at the time of enrollment.
Inability of an adult participant to provide informed consent for themselves (decisionally impaired adult).
General population - Physician referral required
Cohort
Prospective
Not listed
Establish pattern/pace of disease process
To establish the pattern and pace of change of disease (frequency, distribution, type and extent of infections, inflammatory lesions and abnormalities of immune function).
Evaluation of organ dysfunction/damage resulting from immune abnormality
To establish the extent of organ involvement (infection and/or inflammation) and organ damage or dysfunction resulting from the abnormality of immune function.
Characterization of immune abnormalities
To characterize the physiologic, biochemical or genetic basis of theabnormality of immunity.
Assess ability to participate in other studies
To assess the patient's ability to safely tolerate specific aspects of other diagnostic or therapeutic research protocols.
Determine eligibility for other studies
To determine a patient's eligibility for other studies.
Establish baseline of pattern/pace of disease process before participating in therapeutic trials
To establish a baseline assessment of the pace and extent of the disease before entering a therapeutic clinical trial.
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