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Protocol Details

Screening Protocol for Detection and Characterization of Infections and Infection Susceptibility

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Institute of Allergy and Infectious Diseases (NIAID)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 2
Max Age: N/A

Referral Letter Required


Population Exclusion(s)


Special Instructions

Currently Not Provided


CTLA4 Mutation;
Recurrent Infections;
Genetic Mutation;

Recruitment Keyword(s)

Infection Susceptibility;
Recurrent Infections;
Immune Disorders;
Immune Defects of Phagocytes;
Unusual, Chronic Bacterial, Mycobacterial, and Fungal Infections


Immune Disorders;
Chronic Granulomatous Disease;
Genetic Immunological Deficiencies;
Hyperimmunoglobulin-E Recurrent Infection Syndrome;
Recurrent Infections;
Unknown Immune Deficiency;
GATA2 deficiency (MonoMAC);
Nontuberculous Mycobacterial Infections;
Hyper IgE (Job s) Syndrome;
Leukocyte Adhesion Deficiency;
Susceptibility to Disseminated Infections;
Primary Immune Deficiency Disease (PIDD)

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Institute of Allergy and Infectious Diseases

This screening study will examine the causes of immune disorders affecting white blood cells, which defend against infections and will try to develop better means of diagnosis and treatment of these immune disorders. This is a 2 visit screening study and patients determined to be of interest for additional study or treatment will be asked to provide consent for enrollment into an appropriate NIH follow up study. This study does not cover the cost of the first visit to NIH for travel or lodgings but does cover the subsequent visit if there is one. A financial assessment may determine if the patient is eligible for financial assistance. This study does not enroll children under the age of 2.

Patients known to have or suspected of having increased susceptibility to infections and their blood relatives may be eligible for this study, at the discretion of the principal investigator. Patients and family members may undergo the following procedures:

-Personal and family medical history.

-Physical examination and blood and urine tests.

-Studies of breathing function (pulmonary function testing)

-Dental examination.

-Eye examination.

-Genetic Testing

-Stored specimens for future analysis

-Microscopic examination of saliva, wound drainage or tissues removed for medical reasons for cell, hormone or DNA studies.

In addition, patients will be asked to obtain permission for investigators to obtain their medical records, previous test results, or radiographic studies prior to the first visit. Patients will be asked to undergo imaging studies, such as a chest X-ray, CT scan or MRI scan.

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1. Patients known to have, or suspected of having an infection susceptibility will be eligible for enrollment.

2. Patients with known or suspected infections will also be eligible in order to identify the microbiologic cause of the infection, identify the extent of infection, or determine the proper course of treatment. There will be no limit as to age, sex, race or disability.

3. Patients must have a primary physician outside of the NIH and may be required to submit a letter from their physician that documents their relevant health history.

4. The patient or the patient's guardian will be willing and capable of providing informed consent after initial counseling by clinical staff. Separate consent forms for all interventional procedures will be obtained after explanation of the specific procedure.

5. Women of childbearing potential, or who are pregnant or lactating, may be eligible. Interventions in pregnant or lactating women will minimize as much as possible risks to the fetus/infant but will follow state of art evaluation and therapy. Should a woman become pregnant or suspect she may be pregnant while participating in this study, she should inform the study staff and her primary care physician immediately.

6. Patients must agree to have blood and tissue stored for future studies of the immune system and/or other medical conditions.

7. Patients may be concurrently enrolled on other protocols as long as the Principal Investigator is informed.


1. Healthy blood relatives of patients known to have or suspected of having an infection susceptibility will be eligible for enrollment only if they have a sick relative who is enrolled on this protocol as a patient.

2. There will be no limit as age, sex, race or disability.

3. Relatives or the minor relative's guardian must be willing and capable of providing informed consent after initial counseling by clinical staff.

4. Participating relatives agree to have blood stored for future studies of the immune system and/or other medical conditions.


1. A well understood acquired abnormality which leads to infection susceptibility, such as HIV, cytotoxic chemotherapy, or active malignancy may be adequate explanation for the infection diathesis. These may be grounds for exclusion if, in the opinion of the investigators, the presence of such disease process interferes significantly with evaluation (applicable to patients and their blood relatives).

2. Severe or uncommon infections or syndromes often require highly specialized teams and institutions. Some referred cases will not be able to be handled appropriately at the NIH and may be deemed ineligible for admission, as determined by the Principal Investigator.

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Chien WW, Leiding JW, Hsu AP, Zalewski C, King K, Holland SM, Brewer C. Auditory and vestibular phenotypes associated with GATA3 mutation. Otol Neurotol. 2014 Apr;35(4):577-81. doi: 10.1097/MAO.0000000000000238.

Saijo T, Chen J, Chen SC, Rosen LB, Yi J, Sorrell TC, Bennett JE, Holland SM, Browne SK, Kwon-Chung KJ. Anti-granulocyte-macrophage colony-stimulating factor autoantibodies are a risk factor for central nervous system infection by Cryptococcus gattii in otherwise immunocompetent patients. MBio. 2014 Mar 18;5(2):e00912-14. doi: 10.1128/mBio.00912-14.

Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, Arthur DC, Gu W, Gould CM, Brewer CC, Cowen EW, Freeman AF, Olivier KN, Uzel G, Zelazny AM, Daub JR, Spalding CD, Claypool RJ, Giri NK, Alter BP, Mace EM, Orange JS, Cuellar-Rodriguez J, Hickstein DD, Holland SM. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014 Feb 6;123(6):809-21. doi: 10.1182/blood-2013-07-515528. Epub 2013 Nov 13.

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Principal Investigator

Referral Contact

For more information:

Steven M. Holland, M.D.
National Institute of Allergy and Infectious Diseases (NIAID)
BG 10-CRC RM B3-4233
(301) 402-7684

Reginald J. Claypool, R.N.
National Institute of Allergy and Infectious Diseases (NIAID)
National Institutes of Health
Building 10
Room 11S265
10 Center Drive
Bethesda, Maryland 20892
(301) 402-7831

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Clinical Trials Number:


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