Protocol Details

The Determination of Genetic Basis Of Immunodeficiency

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	03-H-0105
Sponsoring Institute	National Heart, Lung and Blood Institute (NHLBI)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 6 mo Max Age: 99 Years
Referral Letter Required	Yes
Population Exclusion(s)	None
Keywords	Cytokines; Inherited Immunodeficiency; Natural History
Recruitment Keyword(s)	None
Condition(s)	Severe Combined Immunodeficiency
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Heart, Lung, and Blood Institute

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.

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Eligibility

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

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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.

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Contacts:

Principal Investigator	Referral Contact	For more information:
Warren J. Leonard, M.D. National Heart, Lung and Blood Institute (NHLBI) National Institutes of Health Building 10 Room 7B05 10 Center Drive Bethesda, Maryland 20892 (301) 496-0098 wl2w@nih.gov	Warren J. Leonard, M.D. National Heart, Lung and Blood Institute (NHLBI) National Institutes of Health Building 10 Room 7B05 10 Center Drive Bethesda, Maryland 20892 (301) 496-0098 wl2w@nih.gov	Office of Patient Recruitment National Institutes of Health Clinical Center (CC) Building 61, 10 Cloister Court Bethesda, Maryland 20892 Toll Free: 1-800-411-1222 Local Phone: 301-451-4383 TTY: TTY Users Dial 7-1-1 ccopr@nih.gov

Clinical Trials Number:

NCT00055172

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