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This study plans to learn more about Down syndrome. The investigators think there is a different level of the AIRE gene in individuals with Down syndrome. The investigators think that the AIRE gene level can provide more insight about depressed immune cell function in individuals with Down syndrome. Patients are being asked to be in this research study because the investigators want to see if their blood contains more of less of the AIRE gene.
Down Syndrome (DS) is the most common chromosomal abnormality among live-born infants. Through full or partial trisomy of chromosome 21, DS is associated with cognitive impairment, congenital malformations (particularly cardiovascular), and dysmorphic features. In addition, immunological abnormalities are much more prevalent in individuals with DS. For example, DS is associated with increased susceptibility to infection, as revealed in 2009 during the influenza pandemic where the likelihood of death was 300 times greater for DS patients than the general population. DS patients have increased frequencies of autoimmune disorders and leukemias, yet curiously, have a decreased risk for allergic diseases, particularly asthma. Perhaps the most telling statistic for immunologic abnormality in DS patients is that respiratory tract infections are the most important cause of mortality in DS at all ages.Our studies have identified AIRE as a master control gene that is aberrantly decreased in persons with DS, leading to autoimmunity and immunologic abnormalities. AIRE ("autoimmune regulator"), although encoded on chromosome 21, is also significantly reduced in expression in DS, where it may contribute to autoimmune and immune dysregulation. The investigators will test the hypothesis that immune dysfunction and autoimmune disease preferentially occur in DS as a consequence of deficient expression of AIRE in peripheral blood cells.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Persons without Down syndrome | Other | White blood cell analysis from persons without Down syndrome assessed by absence of trisomy 21. |
|
| Persons with Down syndrome | Other | White blood cell analysis from persons with Down syndrome assessed by presence of trisomy 21. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Phlebotomy | Other | White blood cell analysis: Subtypes of white blood cells will be counted by flow cytometry |
|
| Measure | Description | Time Frame |
|---|---|---|
| AIRE Gene expression in Macrophage Subpopulations | Peripheral blood draw | At the time of sample acquisition |
| Measure | Description | Time Frame |
|---|---|---|
| White blood cell Subpopulation Numbers | Peripheral blood draw | At the time of sample acquisition |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Michael E Yeager, Ph.D. | University of Colorado, Denver | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Colorado, Denver | Denver | Colorado | 80045 | United States |
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| ID | Term |
|---|---|
| D004314 | Down Syndrome |
| D016884 | Polyendocrinopathies, Autoimmune |
| D012141 | Respiratory Tract Infections |
| D001327 | Autoimmune Diseases |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
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| ID | Term |
|---|---|
| D018962 | Phlebotomy |
| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
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| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D004700 | Endocrine System Diseases |
| D007154 | Immune System Diseases |
| D007239 | Infections |
| D012140 | Respiratory Tract Diseases |
| D003933 | Diagnosis |
| D011677 | Punctures |
| D013812 | Therapeutics |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |