Genetic Basis of Immunodeficiency
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Severe Combined Immunodeficiency. Basic parameters: 6 months — 99 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
The Determination of Genetic Basis Of Immunodeficiency
Overview
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. ...
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.
Primary outcome measures
- To identify forms of inherited immunodeficiency resulting from mutation of yc dependent cytokines, components of their receptors, or signaling molecules in their pathways [Time frame: ongoing]
Eligibility 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 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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Family-based
Study locations
United States · 1 center
- National Institutes of Health Clinical Center — Bethesda
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. doi: 10.1016/0092-8674(93)90167-o. PMID 8462096
- 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. doi: 10.1126/science.270.5237.797. PMID 7481768
- 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. doi: 10.1038/3877. PMID 9843216
Identifiers
NCT: NCT00055172 · 030105 · 03-H-0105