Lay Description

New diseases of the immune system can be discovered by studying the genetic makeup of patients with a strong family history. In addition to providing a diagnosis, genetic studies can suggest better treatments in some cases. We are looking for children with immune mediated symptoms, including immune deficiency, inflammatory symptoms such as fever, and episodes of swelling, with at least one close relative (parent or sibling) who has the same symptom(s) and another who is not affected. Blood samples will be taken and analyzed for genetic differences.


  • Immune System
IRB Number
NCT Number registration not required
Open to Enrollment


Eligible Ages
Eligible Genders
Accepts Healthy Volunteers

Inclusion Criteria

Exclusion Criteria

Study Design

Arm Groups

Study Contact

Regulatory Point of Contact
Edward Brooks
+1 (210) 562-4180

Regulatory Point of Contact
Joann Gongora
(210) 562-5844

Principal Investigator
Anthony Infante