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Protocol Details

Establishing Fibroblast-derived Cell Lines from Skin/Tissue Biopsies of Patients with Immunodeficiency or Immunodysregulation Disorders

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Institute of Allergy and Infectious Diseases (NIAID)

Recruitment Detail

Type: Enrolling by Invitation
Gender: Male & Female
Min Age: 2
Max Age: 85

Referral Letter Required


Population Exclusion(s)



Skin Biopsy;
Innate Immunity;
Induced Pluripotent;
Natural History

Recruitment Keyword(s)

Primary Immunodeficiency;
Common Variable Immunodeficiency;
Severe Combined Immunodeficiency;
Healthy Volunteer;


Primary Immunodeficiency;
Virus Susceptibility

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Institute of Allergy and Infectious Diseases


- National Institutes of Health (NIH) researchers have been studying immune cells (white blood cells) to better understand how the human body s defense system works and adjusts or regulates itself, and how changes in this system can make a person sick.

- To study the cells of patients who have problems with their immune systems, researchers would like to collect samples of skin cells from patients with immune system disorders and compare them with skin cells taken from healthy volunteers. By studying these cells, researchers hope to determine whether these cells can be modified to create a new kind of personalized gene therapy that would attempt to cure immune diseases in the future.


- To obtain skin cells from patients with immune system disorders and from healthy volunteers for research and comparison purposes.


- Patients between the ages of 2 and 85 who have immune system disorders.

- Healthy volunteers between the ages of 18 and 85.

- Both groups will be selected from the eligible participants of existing NIH studies into immune system disorders.


- Researchers may take up to two biopsies from participants arms, legs, abdomen, or back.

- The biopsy site will be numbed with local anesthetic and cleaned before the sample is taken.

- The punch skin biopsy needle will be inserted into the skin and rotated to remove a small circle of skin (approximately 1/4 to 3/8 of an inch across). The area will be closed with bandages or stitches, and then covered with a dressing. Any stitches will be removed in 7 to 10 days.

- Tissue samples collected in the study will be stored for future research.

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1. To be enrolled in this study, a patient must be >=2 years of age but not >85 years of age,

2. have a known diagnosis of primary immunodeficiency or immunodysregulation (or be a blood relative of such as patient),

3. be concurrently enrolled on an NIH IRB approved NIAID protocol that includes genetic testing for disease of the immune system, such as but not limited to 05-I-0213 or 06-I-0015

Patient Relative: To be enrolled in this study, a patient relative must be:

1. A biological relative of a participant being studied under this protocol. Relatives may be biological mother, father, sibling, children, grandparents, aunts, uncles and first cousins.

a. A minor relative of the proban participant must demonstrate that they are asymptomatic carriers or are at risk for the disease

2. be concurrently enrolled on an NIH 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.

3. Greater than or equal to 8 years of age but not greater than 85 years of age,

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


Patients or the Patient Relative are not eligible to be in this trial if::

1. Platelet count less than 20,000/microL

2. The individual 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 they:

1. Areless than 18 years old or older than 85 years

2. Weighs less than 110 pounds

3. Are pregnant or breastfeeding

4. Are 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. Have 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. Have a history of intravenous injection drug use or of engaging in high-risk activities for exposure to the acquired immunodeficiency syndrome (AIDS) virus.

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Hernandez N, Melki I, Jing H, Habib T, Huang SSY, Danielson J, Kula T, Drutman S, Belkaya S, Rattina V, Lorenzo-Diaz L, Boulai A, Rose Y, Kitabayashi N, Rodero MP, Dumaine C, Blanche S, Lebras MN, Leung MC, Mathew LS, Boisson B, Zhang SY, Boisson-Dupuis S, Giliani S, Chaussabel D, Notarangelo LD, Elledge SJ, Ciancanelli MJ, Abel L, Zhang Q, Marr N, Crow YJ, Su HC, Casanova JL. Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency. J Exp Med. 2018 Oct 1;215(10):2567-2585. doi: 10.1084/jem.20180628. Epub 2018 Aug 24. PMID: 30143481; PMCID: PMC6170168.

Lamborn IT, Jing H, Zhang Y, Drutman SB, Abbott JK, Munir S, Bade S, Murdock HM, Santos CP, Brock LG, Masutani E, Fordjour EY, McElwee JJ, Hughes JD, Nichols DP, Belkadi A, Oler AJ, Happel CS, Matthews HF, Abel L, Collins PL, Subbarao K, Gelfand EW, Ciancanelli MJ, Casanova JL, Su HC. Recurrent rhinovirus infections in a child with inherited MDA5 deficiency. J Exp Med. 2017 Jul 3;214(7):1949-1972. doi: 10.1084/jem.20161759. Epub 2017 Jun 12. PMID: 28606988; PMCID: PMC5502429.

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Principal Investigator

Referral Contact

For more information:

Helen C. Su, M.D.
National Institute of Allergy and Infectious Diseases (NIAID)
NIHBC 10 - CRC BG RM 5-3932
(301) 451-8783

Sandra M. Maxwell, R.N.
National Institute of Allergy and Infectious Diseases (NIAID)
National Institutes of Health
Building 10
Room 12C103
10 Center Drive
Bethesda, Maryland 20892
(240) 627-3078

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1

Clinical Trials Number:


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