Genetic Basis of Immunodeficiency - Full Text View

Sponsor:	National Heart, Lung, and Blood Institute (NHLBI)
Information provided by:	National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:	NCT00055172

Purpose

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.

Condition
Severe Combined Immunodeficiency

Study Type:	Observational
Official Title:	The Determination Of Genetic Basis Of Immunodeficiency

Resource links provided by NLM:

Genetics Home Reference related topics: adenosine deaminase deficiency X-linked severe combined immunodeficiency ZAP70-related severe combined immunodeficiency

U.S. FDA Resources

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

Estimated Enrollment:	0
Study Start Date:	February 2003
Estimated Primary Completion Date:	October 2012 (Final data collection date for primary outcome measure)

Detailed Description:

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 in response to these cytokines.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

INCLUSION CRITERIA:

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

EXCLUSION CRITERIA:

Patients to be excluded are those with a known diagnosis or those who are related to an individual with an immunodeficiency of known cause. Other patients may be excluded based on the particular immunological phenotype or the inability of the laboratory to handle additional cases at a given time

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00055172

Contacts

Contact: Patient Recruitment and Public Liaison Office	(800) 411-1222	prpl@mail.cc.nih.gov
Contact: TTY	1-866-411-1010

Locations

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike	Recruiting
Bethesda, Maryland, United States, 20892
Chile
Universidad de Immunologia	Recruiting
Santiago, Chile

Sponsors and Collaborators

National Heart, Lung, and Blood Institute (NHLBI)

More Information

Additional Information:

NIH Clinical Center Detailed Web Page This link exits the ClinicalTrials.gov site

Publications:

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.

Russell SM, Tayebi N, Nakajima H, Riedy MC, Roberts JL, Aman MJ, Migone TS, Noguchi M, Markert ML, Buckley RH, et al. Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Science. 1995 Nov 3;270(5237):797-800.

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.

Study ID Numbers:	030105, 03-H-0105
Study First Received:	February 20, 2003
Last Updated:	August 24, 2009
ClinicalTrials.gov Identifier:	NCT00055172 History of Changes
Health Authority:	United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):

Cytokines
Mutation
DNA
Phenotype

T Cell
Immunodeficiency
Inherited Immunodeficiency

Additional relevant MeSH terms:

Metabolic Diseases
Immune System Diseases
Severe Combined Immunodeficiency

DNA Repair-Deficiency Disorders
Infant, Newborn, Diseases
Immunologic Deficiency Syndromes

ClinicalTrials.gov processed this record on November 27, 2009