Protocol Number: 09-I-0102

Title:

Etiology, Pathogenesis, and Natural History of Idiopathic CD4+ Lymphocytopenia

Number:

09-I-0102

Summary:

Idiopathic CD4+ lymphocytopenia (ICL) is a disorder characterized by decreased numbers of circulating CD4+ T lymphocytes in the absence of known causes of CD4+ lymphocytopenia. ICL is defined as an absolute CD4+ T cell count of less than 300 cells/mL in a patient with no human immunodeficiency virus infection or known immunodeficiency syndrome. The causes and frequency of the disorder remain unknown. The condition is typically diagnosed when patients present with a serious infection. In this natural history protocol, we will evaluate patients with CD4+ T cell counts below 300 cells/microL. We propose to follow 100 patients for a minimum of 4 and maximum of 10 years, with a particular focus on the association between ICL and autoimmune disease. We will collect blood for immunologic, rheumatologic, and genetic testing in an effort to identify and understand the underlying defects that cause ICL and follow its course in a cohort of patients who will receive best standard therapy for opportunistic infections.

Sponsoring Institute:

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:

To be eligible for this study, patients must satisfy all of the following inclusion criteria:

- Age greater than or equal to 2 years

- Absolute CD4 count < 300 cells/microL or < 20% of total T cells in children greater than or equal to 6 years old and adults on at least two occasions at least 6 weeks apart; or CD4+ percentage < 20% of normal on 2 occasions at least 6 weeks apart in children < 6 years old

- Ongoing care by a referring primary care physician

- Willingness to allow storage of blood and tissue samples for future analysis

EXCLUSION CRITERIA:

Patients will be ineligible for this study if they satisfy any of the following criteria:

- Infection with HIV-1, HIV-2, or human T-cell lymphotropic viruses (HTLV-1 or HTLV-2) as demonstrated by ELISA and Western blot and/or viral load testing

- Known underlying immunodeficiency syndrome

- Evidence of active malignancy

- Receipt of medications, herbal substances, or biologic agents known to diminish the CD4+ count within 30 days of when the CD4+ lymphocytopenia was detected

- Any condition that in the judgment of the investigators would place the subject at undue risk or compromise the results of the study.

Special Instructions:

Currently Not Provided

Keywords:

Idiopathic Lymphocytopenia

Opportunistic Infection

Immunodeficiency Syndrome

Autoimmune Disease

CD4+ Lymphocytes

Recruitment Keyword(s):

None

Condition(s):

Idiopathic CD4+ lyphocytopenia

Cryptococcal Meningitis

Warts

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):

Fauci AS. CD4+ T-lymphocytopenia without HIV infection--no lights, no camera, just facts. N Engl J Med. 1993 Feb 11;328(6):429-31.

Laurence J, Siegal FP, Schattner E, Gelman IH, Morse S. Acquired immunodeficiency without evidence of infection with human immunodeficiency virus types 1 and 2. Lancet. 1992 Aug 1;340(8814):273-4.

Ho DD, Cao Y, Zhu T, Farthing C, Wang N, Gu G, Schooley RT, Daar ES. Idiopathic CD4+ T-lymphocytopenia--immunodeficiency without evidence of HIV infection. N Engl J Med. 1993 Feb 11;328(6):380-5.

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