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Protocol Number:
06-I-0049
- Title:
Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States
- Number:
06-I-0049
- Summary:
This study investigates gene abnormalities in Primary Immune Deficiency(PID) with a goal of improving the diagnosis and treatment of patients.
The specific disorders include:
a. X linked hyper IgM Syndrome which is caused by an abnormality in the CD40L gene.
b. NEMO associated immune deficiency which is caused by an abnormality in a gene called NEMO.
c. Common variable immunodeficiency (CVID) which has an unknown genetic basis.
d. Other disorders of immunoglobulin production.
This study will:
1. Better characterize the clinical features of CD40 L deficiency and NEMO associated immune deficiency and other related primary immune deficiency syndromes.
2. Determine the frequency of CD40 L and Nemo abnormalities.
3. Determine whether particular abnormalities in these genes are associated with more of less severe illness or with specific symptoms.
4. Explore the basic mechanism by which these altered genes cause immune dysfunction.
5. Identify other genes causing low immune globulin levels and related primary immune deficient states.
- Sponsoring Institute:
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National Institute of Allergy and Infectious Diseases (NIAID)
- Recruitment Detail
- Type:
Participants currently recruited/enrolled
- Gender:
Male & Female
- Referral Letter Required:
No
- Population Exclusion(s):
None
- Eligibility Criteria:
INCLUSION CRITERIA:
All patients must have a known or suspected immune defect with hyper-IgM syndrome and/or disorders of immunoglobulin production. There will be no limit on age, sex, race, or disability. Normal volunteers must be healthy adults between the age of 18 and 70 years and of either sex.
EXCLUSION CRITERIA:
The presence of an acquired abnormality, which leads to immune defects, such as HIV, chemotherapy, and malignancy are general exclusion criteria. Refusal to let us store samples may lead to withdrawal from this specific study. Other factors, which in the judgment of the investigators will interfere with patient evaluation or would pose added risk for study participants are also criteria for exclusion.
Patients who have received the Keyhole Limpet Hemocyanin (KLH) and Bacteriophage PhiX 174 will not be excluded from the protocol.
- Special Instructions:
Currently Not Provided
- Keywords:
-
CD40 Ligand
-
Nemo
-
Genetics
-
Hyper-IGM
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Ectodermal Dysplasia
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CVID
- Recruitment Keyword(s):
-
Hyper-IgM Syndrome
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Primary Immune Deficiency Disorders
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Common Variable Immune Deficiency
- Condition(s):
-
Hyper-IgM syndrome
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Ectodermal dysplasia
- Investigational Drug(s):
- None
- Investigational Device(s):
- None
- Intervention(s):
- None
- Supporting Site:
- National Institute of Allergy and Infectious Diseases
- Contact(s):
-
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
Electronic Mail:prpl@mail.cc.nih.gov
- Citation(s):
-
Durandy A, Revy P, Imai K, Fischer A. Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects. Immunol Rev. 2005 Feb;203:67-79.
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Jain A, Atkinson TP, Lipsky PE, Slater JE, Nelson DL, Strober W. Defects of T-cell effector function and post-thymic maturation in X-linked hyper-IgM syndrome. J Clin Invest. 1999 Apr;103(8):1151-8.
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Durandy A, Revy P, Fischer A. Human models of inherited immunoglobulin class switch recombination and somatic hypermutation defects (hyper-IgM syndromes). Adv Immunol. 2004;82:295-330.
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