Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders

• INCLUSION CRITERIA:

Patients:

To be enrolled in this study, a patient must be greater than or equal to 2 years of age but not greater than 85 years of age, have a known diagnosis of primary immunodeficiency or immunodysregulation (or be a blood relative of such as patient), and be concurrently enrolled on an NIAID IRB approved protocol that includes genetic testing for disease of the immune system, such as but not limited to 05-I-0213 or 06-I-0015.

Healthy Volunteers:

To be enrolled in this study, a normal volunteer must fulfill all of the following criteria:

• 1. Be enrolled on protocol 05-I-0213.
• 2. Be a healthy adult of either sex and between ages of 18 years and 85 years

EXCLUSION CRITERIA:

Patients with a primary immunodeficiency or immunodysregulation disorder (or a blood relative of such a patient) are not eligible to be in this trial if:

• 1. Platelet count less than 20,000/microL
• 2. Patient is hemodynamically unstable because of acute bleeding.
• 3. Any condition that, in the investigator s opinion, places the patient at undue risk by participating in the study or limits the utility of the specimen to be obtained.
• 4. For Nasal Scraping: a history of turbinectomy or significant nasal pathology that would preclude obtaining mucosal scrape biopsies.

A Healthy Volunteer is not eligible to be in this trial if he or she fulfills any of the following criteria:

• 1. Less than 18 years old or older than 85 years
• 2. Weighs less than 110 pounds
• 3. Is pregnant or breastfeeding
• 4. Is receiving a chemotherapeutic agent(s) or has a malignancy
• 5. Cannot avoid taking aspirin or non-steroidal anti-inflammatory medications during the 7 days preceding skin biopsy
• 6. Have history of heart, lung, kidney disease, bleeding disorders, diabetes mellitus, chronic peripheral arterial or venous insufficiency, chronic diffuse skin conditions without uninvolved areas suitable for skin biopsy, poor skin healing, or keloid formation.
• 7. Has been diagnosed as having viral hepatitis (B or C), human immunodeficiency virus (HIV), or a carrier for methicillin-resistant Staphylococcus aureus (MRSA)
• 8. Hemoglobin measurement is less than 12.0 g/dL
• 9. Platelet count less than 150,000/(micro)L
• 10. PT greater than 15.0 seconds or PTT greater than 40 seconds
• 11. Has a history of intravenous injection drug use or of engaging in high-risk activities for exposure to the acquired immunodeficiency syndrome (AIDS) virus.