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Terminated No phase listed Observational

Genetic Basis of Primary Immunodeficiencies

ClinicalTrials.gov ID: NCT00001788

Public ClinicalTrials.gov record NCT00001788. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.

ClinicalTrials.gov public records Last synced Oct 6, 2026, 7:04 PM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Official title

Molecular Basis of Primary Immunodeficiencies

Brief summary

Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.

The purpose of this study is to evaluate patients with primary immunodeficiency disorders to identify patients with mutations of the genes for the following proteins: Jak3, STAT1, STAT4, interleukin-7, interleukin-7 receptor, interleukin-12 receptor subunits, and others. Patients will undergo screening history, physical examination, and clinical laboratory evaluation at referring institutions and tissue samples, or cell lines will be sent to the NIH. We will establish cell lines if necessary, prepare DNA and RNA for molecular genetic analysis and study cytokine signal transduction in patient cell lines.

Study identification

NCT ID
NCT00001788
Recruitment status
Terminated
Study type
Observational
Phase
Not listed
Enrollment
119 participants

Conditions and interventions

Interventions

Not listed

Eligibility (public fields only)

Age range
Not listed
Sex
All
Healthy volunteers
Healthy volunteers not accepted

This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.

Study timeline

Start date
Aug 21, 2011 (Actual)
Primary completion
Jul 2, 2019 (Actual)
Completion
Jul 16, 2020 (Actual)
Last update posted
May 27, 2021

2011 – 2020

United States locations

U.S. sites
1
U.S. states
1
U.S. cities
1
Facility City State ZIP Site status
National Institutes of Health Clinical Center, 9000 Rockville Pike Bethesda Maryland 20892 —

Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.

About this trial record page

What this page shows
Public field values for ClinicalTrials.gov record NCT00001788, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
What this page does not do
No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
Where the data comes from
Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
Last refresh
Last update posted May 27, 2021 · Synced Oct 6, 2026

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Open the official record

The complete public registry record, listed eligibility criteria, and available contact information for NCT00001788 live on ClinicalTrials.gov.

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