Protocol Number: 03-H-0105

Title:

The Determination Of Genetic Basis Of Immunodeficiency

Number:

03-H-0105

Summary:

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.

Sponsoring Institute:

National Heart, Lung and Blood Institute (NHLBI)

Recruitment Detail

Type: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility 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

Special Instructions: Currently Not Provided

Keywords:

Cytokines

Mutation

DNA

Phenotype

T Cell

Recruitment Keywords:

Immunodeficiency

Inherited Immunodeficiency

Conditions:

Severe Combined Immunodeficiency

Investigational Drug(s):

None

Investigational Device(s):

None

Contacts:

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:

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.

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
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Bethesda, Maryland 20892. Last update: 10/27/2004