Detection and Characterization of Host Defense Defects to Understand Immune Disorders and Improve Diagnosis and Treatment in Patients and Families

What this Trial Is About

Researchers are studying patients with documented recurrent or unusual infections and their family members to understand immune system abnormalities, focusing on inherited defects affecting phagocytes, a type of white blood cell important for fighting infections. This research aims to uncover the genetic and biochemical causes of these immune diseases and improve diagnosis, treatment, and prevention of infections related to them. The study also allows long-term follow-up to better understand these conditions and support therapy development. Participants may undergo various evaluations, including medical history review, physical exams, blood tests, urine and saliva collection, imaging studies like chest X-rays or CT scans, lung function tests, dental and eye exams, and collection of wound fluid if relevant. Tissues removed during medical care may be studied, and genetic testing may be performed. Family members may also provide samples and medical information. Follow-up visits occur irregularly but at least every six months to monitor health and collect additional samples. During the study, participants provide specimens such as blood, saliva, urine, and wound fluid for research. Researchers monitor disease improvement by looking for normalization or sustained improvement, including reduction or withdrawal from certain medications. Participants may be asked to provide medical records and prior test results. The study does not cover travel or lodging costs for the initial visit, and children under 2 years are not enrolled.

Detection and Characterization of Host Defense Defects