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Developing Newborn Screening for Infants With Primary Immunodeficiency

This study has been completed.
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: June 7, 2005
Last updated: January 24, 2017
Last verified: April 13, 2007

This study will explore screening for immunodeficiency diseases (diseases that cause problems in fighting infections). There is no method at present to screen all babies at birth for immunodeficiency. However, babies with low numbers of T-cells-an important type of immune system cell-may be found by studying T-cell products called TRECs (T-cell receptor excision circles). This study will:

  • Collect samples from children with several different immunodeficiencies to find out which disorders can be found by screening dried blood spots for TRECs.
  • Try to develop screening tests based on other kinds of material derived from dried blood spots.

Children with primary immunodeficiency and low numbers of T cells who have not had a bone marrow transplant may be eligible for this study.

Participating children donate up to 5 ml (1 teaspoon) of blood. The sample may be collected when the child is having other blood tests. The liquid blood is analyzed to determine the number of T cells, and the rest of the blood is used to make dried blood spots on filter paper. The blood spots are used to develop screening tests for immunodeficiency. The blood spots and data about the child's age, diagnosis, and current medicines will be kept coded by diagnosis and a code number instead of the child's name.

Immune System Diseases

Study Type: Observational
Official Title: Developing Newborn Screening for Infants With Primary Immunodeficiency

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 100
Study Start Date: June 2, 2005
Estimated Study Completion Date: April 13, 2007
Detailed Description:

Study Objective: T cell receptor excision circles (TRECs) are episomal DNA circles excised from the T cell receptor genes during T cell maturation in the thymus. They do not replicate, so they are diluted out as T cells proliferate. Our objectives are to examine the levels of TRECs in blood samples from patients with primary immunodeficiency (PI) diseases; to determine which PI diseases might be detected by testing newborn dried blood spots for low numbers of TRECs; and to use the blood spots collected for future confirmatory or alternative tests to develop newborn screening for PIs.

Population: Patients diagnosed with defined primary T cell immunodeficiency diseases or undefined conditions with very low T cell numbers. There are several known, and additional unknown, gene defects that impair T lymphocyte maturation and function. The frequency of these rare disorders is unknown, but could potentially be learned in the course of population-based newborn screening.

Design: We will contact our network of immunology colleagues to help us identify and enroll patients already diagnosed with PI disorders. These patients will have had HIV ruled out as part of their immune evaluation. We will provide mail-in kits and will receive blood samples for analysis. We will attempt to retrieve the actual Guthrie cards containing the dried blood spots of these patients from their state screening laboratories to determine the number of TRECs that were present at birth in infants with these conditions.

Outcome Measures: We will measure TRECs in dried blood spots, and correlate TREC number with diagnosis and clinical and laboratory data. We hope to determine the range of immunodeficiency diseases that can be demonstrated to have significantly reduced TRECs as compared to healthy subjects using our assay. Because TREC testing may be insufficiently sensitive or specific as a stand-alone test, further tests may be developed and performed on the samples in the future, including DNA re-sequencing, detection of mRNA for T cell specific genes and/or proteins expressed only in T cells.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Patient who has not yet received a BMT and who has defined PI or undefined PI with T cell lymphopenia.


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Please refer to this study by its identifier: NCT00113464

United States, Connecticut
Yale University
New Haven, Connecticut, United States, 06510-8005
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
  More Information

Publications: Identifier: NCT00113464     History of Changes
Other Study ID Numbers: 050162
Study First Received: June 7, 2005
Last Updated: January 24, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):
SCID (Severe Combined Immunodeficiency)
TREC (T cell Receptor Excision Circle)
Bone Marrow Transplant
Dried Blood Spots
Early Detection
T Cell Immunodeficiency Diseases
Immunodeficiency Diseases
Primary Immunodeficiency
T Cell Immunodeficiency Disease
Severe Combined Immunodeficiency

Additional relevant MeSH terms:
Immunologic Deficiency Syndromes
Immune System Diseases processed this record on April 21, 2017