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Genetic Basis of Immunodeficiency

NCT ID: NCT00055172

Last Updated: 2025-12-26

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2004-04-05

Brief Summary

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This study will examine the role of hereditary factors in different forms of severe combined immunodeficiency (SCID).

Patients with immunodeficiencies may be eligible for this study. Candidates include:

* Patients with diminished numbers of T cells or NK cells or both, or
* Patients with normal T cell and NK cell numbers but diminished T cell, B cell, or NK cell function.

Relatives of patients will also be studied.

Participants will have blood samples collected for genetic analysis in studies related to SCID at the National Institutes of Health and other institutions.

Detailed Description

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The goal of this project is to identify the genetic basis of new forms of inherited immunodeficiency. The particular focus relates to cytokines such as IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21 that share the common cytokine receptor (Gamma) chain, (Gamma c), and to molecules that are important for signaling or gene regulation in response to these cytokines, although other causes of inherited immunodeficiency are also encompassed.

Conditions

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Severe Combined Immunodeficiency

Keywords

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Cytokines Inherited Immunodeficiency Natural History

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Non-sibling relative

18 years of age or older

No interventions assigned to this group

Patients (index cases)

Patients (index cases), 6 months of age or older

No interventions assigned to this group

Siblings

Siblings, 6 months of age or older

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

Index cases to be included are those with diminished numbers of T cells and/or NK cells and/or B cells or other immune cells or those who have normal numbers of T cell, B cells, NK cells and other immune cells but diminished function of one or more immune cells. Relatives of affected individuals may also be studied

* Patients (index cases): 6 months of age and older
* Siblings: 6 months of age and older
* Non-sibling relatives (biological parent, aunt, uncle or grandparent): 18 years or older

Exclusion Criteria

* Patients with a known diagnosis
* Patients with a particular immunological phenotype that is not of interest to the research conducted under this study.
* Pregnancy or lactation
* Adults with current decisional impairment
Minimum Eligible Age

6 Months

Maximum Eligible Age

99 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Heart, Lung, and Blood Institute (NHLBI)

NIH

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Warren J Leonard, M.D.

Role: PRINCIPAL_INVESTIGATOR

National Heart, Lung, and Blood Institute (NHLBI)

Locations

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National Institutes of Health Clinical Center

Bethesda, Maryland, United States

Site Status RECRUITING

Countries

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Chile United States

Central Contacts

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Warren J Leonard, M.D.

Role: CONTACT

Phone: (301) 496-0098

Email: [email protected]

Facility Contacts

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For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

Role: primary

References

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Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell. 1993 Apr 9;73(1):147-57. doi: 10.1016/0092-8674(93)90167-o.

Reference Type BACKGROUND
PMID: 8462096 (View on PubMed)

Russell SM, Tayebi N, Nakajima H, Riedy MC, Roberts JL, Aman MJ, Migone TS, Noguchi M, Markert ML, Buckley RH, O'Shea JJ, Leonard WJ. Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Science. 1995 Nov 3;270(5237):797-800. doi: 10.1126/science.270.5237.797.

Reference Type BACKGROUND
PMID: 7481768 (View on PubMed)

Puel A, Ziegler SF, Buckley RH, Leonard WJ. Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. Nat Genet. 1998 Dec;20(4):394-7. doi: 10.1038/3877.

Reference Type BACKGROUND
PMID: 9843216 (View on PubMed)

Related Links

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https://clinicalstudies.info.nih.gov/cgi/detail.cgi?A_2003-H-0105.html

NIH Clinical Center Detailed Web Page

Other Identifiers

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03-H-0105

Identifier Type: -

Identifier Source: secondary_id

030105

Identifier Type: -

Identifier Source: org_study_id