Genetic Basis of Immunodeficiency

This study is currently recruiting participants.

See

Verified June 1, 2017 by National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) )

Sponsor:

Information provided by (Responsible Party):

National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) )

ClinicalTrials.gov Identifier:

NCT00055172

First received: February 20, 2003

Last updated: June 30, 2017

Last verified: June 1, 2017

History of Changes

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: Omenn syndrome X-linked severe combined immunodeficiency ZAP70-related severe combined immunodeficiency adenosine deaminase deficiency purine nucleoside phosphorylase deficiency

Genetic and Rare Diseases Information Center resources: Severe Combined Immunodeficiency

U.S. FDA Resources

Further study details as provided by National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) ):


Estimated Enrollment:	99999999
Study Start Date:	February 14, 2003

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 or gene regulation in response to these cytokines, although other causes of inherited immunodeficiency are also encompassed.

Eligibility


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

Criteria

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 to be excluded are those with a known diagnosis. 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

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

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

Contacts


Contact: Warren J Leonard, M.D.	(301) 496-0098	wl2w@nih.gov

Locations


United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike	Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 prpl@mail.cc.nih.gov
Chile
Universidad de Immunologia	Recruiting
Santiago, Chile

Sponsors and Collaborators

National Heart, Lung, and Blood Institute (NHLBI)

Investigators


Principal Investigator:	Warren J Leonard, M.D.	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, 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.

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.


Responsible Party:	National Heart, Lung, and Blood Institute (NHLBI)
ClinicalTrials.gov Identifier:	NCT00055172 History of Changes
Other Study ID Numbers:	030105 03-H-0105
Study First Received:	February 20, 2003
Last Updated:	June 30, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) ):


Cytokines Mutation DNA Phenotype	T Cell Immunodeficiency Inherited Immunodeficiency

Additional relevant MeSH terms:


Immunologic Deficiency Syndromes Severe Combined Immunodeficiency Immune System Diseases	Infant, Newborn, Diseases DNA Repair-Deficiency Disorders Metabolic Diseases

ClinicalTrials.gov processed this record on July 24, 2017

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