Micro-RNA Expression Profiling of Patients with Primary Immunodeficiency Diseases.

Study ID
STU 072010-003

Cancer Related

Healthy Volunteers

Study Sites

  • UT Southwestern-Other
  • Children’s Medical Center (Dallas, Plano, Southlake)

Sally Redden

Principal Investigator
Maria Teresa De La Morena, M.D.


Study Design: This is a descriptive exploratory analysis aimed at characterizing miRs expression profiles in patients with PiD. The primary endpoint is to catalog miRs expression profiles for each PiD category. Due to the rarity of some PiD (see below), this analysis is expected to be biased to those PiD categories most frequently encountered in the immunology Clinics at Children's Medical Center.

100 patients with PiD will be solicited for the study by Dr. de la Morena when they come for routine clinic visits to the outpatient immunology Clinics at Children's Medical Center. adult patients in the aston Center will be solicited by Dr. Khan during a routine clinic visit. PiD are rare disorders with incidence between 1:700 and 1:1,000,000. The number of subjects suggested in this study was determined by feasibility and costs of analysis. Since this is an exploratory analysis, subsequent studies will be required to meet statistical standards.

30 control subjects will be included in this study. Subjects will be broken down into three categories based on age:
* Less than 3 years of age;
* 3 years to 10 years of age;
* Greater than 10 years to 21 years of age.

The combined total (PiD patients plus control subjects) for this study is 130 subjects.

Study subjects are all patients of the Pi and carry a PiD diagnosis; control subjects are patients of the Surgical Division at Children's Medical Center Dallas. During an established standard of care clinic visit and once informed consent is obtained, if a patient/control meets inclusion criteria, a de-identified number is assigned for each patient (see Procedures to Maintain Confidentiality) and a blood sample will be obtained during the routine laboratory venopuncture needed for standard of care. Since this study involves children, the total volume drawn will depend on the child's size (see Study Procedures below). name, age, gender, race, diagnosis, laboratory studies, clinical status, and therapies will be reviewed and collected from the patient's medical records once consent is obtained.

it is expected that this study will last at least one year. However, since this is an exploratory analysis, the results of this study may lead to other studies in the future.

Sub-Study: The primary objective of the sub-study is to catalog the micro-Rna expression profiles for thymic tissue prepared from patients with DiGeorge Syndrome and patients without DiGeorge Syndrome. DiGeorge Syndrome is a genetic disease resulting from a hemizygous deletion of chromosome 22q11.2. The disease is manifested by cardiac abnormalities, hypothyroidism, and immunodeficiencies resulting from inefficient T-cell development in the thymus. it is hypothesized that certain micro-Rna's are required for normal T-cell development and that these are deficient in patients with DiGeorge Syndrome. The identification of these micro-Rna's could be used as a molecular tool to differentiate between individuals with normal versus abnormal immune responses.

100 cardiac patients, ages birth to 6 years, with congenital heart disease will be solicited for the sub-study. Dr. de la Morena will work closely with cardiac surgery to identify possible patients. although 100 cardiac patients will be included in the study, only 20 of the thymic tissue samples will be subsequently studied. This is because the diagnosis of DiGeorge Syndrome is unlikely to have been made prior to the surgery. The presence of a small thymic tissue, removed and discarded during the surgery, would be suggestive of a DiGeorge phenotype. The number of subjects suggested in this study was determined by feasibility, with an estimated 10 DiGeorge patients per 100 individuals undergoing cardiac surgery and the use of 10 controls. Subjects will be broken down into two categories based on subsequent diagnosis:
* normal fish 22q11 (non-DiGeorge patients or controls)
* Fish 22q11 deletion (patients with DiGeorge Syndrome)

Participant Eligibility

Criteria for Inclusion of Subjects: Criteria for inclusion of Control Subjects:
Main Study Main Study
Age 0 - 65 years Age 0 x 21 years
Male or female Male or female
Diagnosis of PID All ethnic backgrounds
All ethnic backgrounds All Spanish speaking subjects
All Spanish speaking subjects

Sub-study Sub-study
Cardiac patients, birth to 6 yrs. Cardiac patients, ages birth to 6 yrs
Male or female Male or female
All ethnic backgrounds Patients without DiGeorge Syndrome
All Spanish speaking subjects All ethnic backgrounds
All Spanish speaking subjects