Protocol Details
The Determination of Genetic Basis Of Immunodeficiency
This study is currently recruiting participants.
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.
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
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.
Contacts:
Clinical Trials Number:
NCT00055172