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Understanding Genetic Immune System Disorders

This study aims to understand genetic disorders of the immune system, specifically focusing on conditions like PI3KCD, CTLA4, STAT3GOF, and MAGT1. Researchers want to discover new genes involved in undiagnosed immune disorders and learn about the natural progression of these newly identified conditions. The study is open to adults and children aged 3 to 99 years old who have an immune disorder or symptoms of one, as well as their relatives. The goal is to better understand how genetic pathways affect the immune system, particularly how immune cells are regulated, which could lead to new treatments.

Study design
This is an observational study, meaning researchers will watch and collect information without giving specific treatments. It plans to enroll 500 participants.
What's involved
You may be asked to mail in a blood or saliva sample, or visit the clinic for a medical history, physical exam, blood tests, and imaging scans. Researchers will also review your medical records.
Compensation
Not stated in the trial record.
Follow-up
The study will follow participants on an ongoing basis to discover new genes and study the natural history of identified genetic disorders.

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NCT02257892

Novel Genetic Disorders of the Immune System

Recruiting
Not specifiedAges 3–99Observational
National Institute of Allergy and Infectious Diseases (NIAID)
~500 participants
Updated 2026-08-28 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
discover novel genes in undiagnosed immune disorders
Measured over ongoing
+1 more outcome measured

Conditions

PI3KCD
CTLA4
STAT3GOF
MAGT1

Explore related trials

Autoimmune DiseaseAutoinflammatory SyndromeInborn Error of Immunity

Where it's being run

1 sites across 1 states
Maryland1

Study leadership

  • V. Koneti Rao, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Allergy and Infectious Diseases (NIAID)

Who to contact

Alanvin D Orpia, R.N.
[email protected]
(240) 550-3663
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Patient and relatives aged 0-99 years old to include women who are pregnant or breastfeeding. Only patients \>2 years of age, in stable clinical status and meeting the weight requirement of the NIH CC will be physically evaluated at the NIH CC.
Willingness to allow storage of blood, saliva, and other tissue specimens for future use in medical research.
Willingness to participate in genetic testing and allow sharing of genetic information in secure databases like dbGAP. These tests may include, but are not limited to, whole exome and whole genome sequencing.
Priority may be given to individuals with a family history (if readily available) suggestive of multiple affected members with a constellation of signs and symptoms suggestive of immune dysfunction among first- or second-degree relatives.
Eligibility of special populations
A. NIH employees are eligible
B. Women who are pregnant or breast feeding are eligible to enroll as probands Pregnant relatives are also eligible for inclusion as
C. Pediatric populations are eligible, with restrictions, in order to learn about the natural history of the immune disorders under investigation and to provide diagnostic work up for their ongoing clinical care. Healthy pediatric relatives can provide important diagnostic and genetic reference for affected patients.
Pediatric populations are eligible, with restrictions, in order to learn about the natural history of the immune disorders under investigation and to provide diagnostic work up for their ongoing clinical care. Healthy pediatric relatives can provide important diagnostic and genetic reference for affected patients.
An identified genetic basis for an immune disorder or signs and symptoms suggestive of clinically significant immune dysregulation and/or immunodeficiency manifesting with features including but not limited to autoimmunity, autoinflammatory conditions, lymphadenopathy, end-organ dysfunction, unusual infections, allergies, or laboratory abnormalities consistent with immune dysregulation.
A primary physician outside of the NIH and will be required to submit a letter or clinical summary from their referring physician that documents their relevant health history.

Exclusion

Known genetic disorders that are already well characterized, such as severe combined immunodeficiency (SCID), chronic granulomatous disease (CGD), etc., and those in which we do not have an enduring research interest in the LCIM.
Patients with unknown immune disorders will be excluded if they have received chemotherapy within the last 6 months for a malignancy or have infections such as HIV or mycobacterial infections.
Severe clinical illness requiring highly specialized teams and institutions. The NIH may not be able to provide appropriate care for certain referred cases. The Principal Investigator (PI) may determine that the patient is eligible for enrollment but ineligible for admission to the Clinical Center. Patients and relatives with certain obstetric issues may pose a safety risk for travel and evaluation here. Eligibility for this group will be determined on a case by case basis by the PI.
Patients with well-defined autoimmune conditions such as systemic lupus erythematosus (SLE), Hashimoto s thyroiditis, Addison s disease, Graves disease, sarcoidosis and rheumatoid arthritis, among others.
Any condition which in the opinion of the investigator may interfere with evaluation of an immune system abnormality that is the subject of study under this protocol.

What this trial measures

  • discover novel genes in undiagnosed immune disordersongoing

    Determination of a discrete genotype-phenotype association leading to a diagnosis and understanding of the natural history of the patient s immune disorder, an underlying trait, or both.

  • study the natural history of newly identified genetic disordersongoing

    Determination of a discrete genotype-phenotype association leading to a diagnosis and understanding of the natural history of the patient s immune disorder, an underlying trait, or both.