Genetic Analysis of Immune Disorders

Launched by NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES (NIAID) · Nov 3, 1999

Keywords

ClinConnect Summary

This clinical trial is focused on understanding certain immune disorders, like DOK 8, STAT1, GATA2, and others, which can affect how our bodies fight infections and respond to diseases. The study aims to find out which genes are linked to these disorders, what health problems they may cause, and how we can predict who might develop these issues or pass them on to their children. Patients who have or may have these immune disorders, along with their family members, can take part in the study.

Eligible participants of all ages and backgrounds will provide a small blood sample for testing, and in some cases, additional samples may be collected through a quick mouth brush or a tiny skin biopsy. If researchers find a specific gene that explains the immune disorder, the results will be shared with the patient’s doctor or genetic counselor, who can discuss what this means for the family. By participating, individuals may gain valuable insights into their health and help researchers learn more about the immune system and its disorders, which could improve treatments and family planning decisions in the future.

Gender

ALL

Eligibility criteria

• * INCLUSION / EXCLUSION CRITERIA:
• • Probands and their blood relatives, of any age, and ethnicity, who are affected, or suspected of being affected with genetic conditions and immune dysregulations under study are eligible to enroll as patients and family member enrollees.