Protocol Details

Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	06-I-0049
Sponsoring Institute	National Institute of Allergy and Infectious Diseases (NIAID)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: UNK Max Age: UNK
Referral Letter Required	No
Population Exclusion(s)	None
Special Instructions	Currently Not Provided
Keywords	CD40 Ligand; Nemo; Genetics; Hyper-IGM; Ectodermal Dysplasia; CVID
Recruitment Keyword(s)	Hyper-IgM Syndrome; Primary Immune Deficiency Disorders; Common Variable Immune Deficiency
Condition(s)	Hyper-IgM syndrome; Ectodermal dysplasia
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Institute of Allergy and Infectious Diseases

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.

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Eligibility

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. All study participants enrolled on to this study must agree to allow PI to store research samples. Refusal to let PI store samples may lead to withdrawal fro this specific study.

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 are in the judgment of the Principal Investigator PI that may interfere with patient evaluation or determine to pose an added risk for study participants are also criteria for exclusion.

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Citations:

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.

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.

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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Contacts:

Principal Investigator	Referral Contact	For more information:
Ashish K. Jain, M.D. National Institute of Allergy and Infectious Diseases (NIAID) National Institutes of Health BG 10-CRC RM 5-3950 10 CENTER DR BETHESDA MD 20814 (301) 594-5691 ajain@niaid.nih.gov	Pamela D. Graham National Institute of Allergy and Infectious Diseases (NIAID) National Institutes of Health Building 10 Room 12C103 10 Center Drive Bethesda, Maryland 20892 (301) 435-7173 edmondsp@mail.nih.gov	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 prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00266513

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