Genetic Basis of Immunodeficiency

National Heart, Lung, and Blood Institute (NHLBI)100 enrolled

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.

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.

Study Type

OBSERVATIONAL

Enrollment

100

Conditions

Severe Combined Immunodeficiency

Eligibility

Sex: ALLMin age: 6 MonthsMax age: 99 Years

Medical Language ↔ Plain English

* 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

Outcomes

Primary Outcomes

To identify forms of inherited immunodeficiency resulting from mutation of yc dependent cytokines, components of their receptors, or signaling molecules in their pathways

In an effort to determine the cause of the immunodeficiency, we will perform studies that may include but not be limited to evaluating the levels of expression of protein and/or mRNA, obtaining DNA sequence data, performing epigenetic studies, and evaluating biological function using cellular, biochemical, or other molecular studies.

Time frame: ongoing