Investigation of the Human Immune Response in Normal Subjects and Patients With Disorders of the Immune System and Cancer

Background:

• The evaluation of the cells of the immune system and HTLV-1 infection has been a central focus of the Metabolism Branch for the past 30 years.
• Blood obtained by apheresis or blood drawing, skin biopsies and other tissues will be evaluated for abnormalities related to immunity, HTLV-1 infection and the immune system.
• Advances in the characterization of acquired genetic changes in tumor samples has

led to insights for the development of targeted therapy of malignancy

Objectives:

• To characterize the molecular biology and immunological features as well as the clinical course of individuals with suspected or known disorders of the immune system or cancer
• To define the nature of the immunological, genetic and epigenetic abnormalities in the cells of patients with immunodeficiency diseases associated with infections and/or a high incidence of malignancy and in patients with cancer.
• To obtain whole blood, plasma and leukocytes, as well as skin, lymph node and bone marrow biopsies on patients with immunodeficiency or cancer to investigate the immune system.

Eligibility:

• Subjects with cancer.
• Subjects with immunodeficiency.
• Subjects with HTLV-1 infection.

Design:

-This is a natural history study that permits tissue acquisition for analysis of the immune system and HTLV-1 infection.

• INCLUSION CRITERIA:

Participants must meet at least one of these criteria:

Have suspected or known disorder of the immune system or cancer

Be a known or potential carrier of autoimmune disorder or immunodeficiency disease. Specific disorders may include but are not limited to:

• X-linked (severe combined immunodeficiency)
• Autosomal recessive SCID
• X-linked CD40 ligand deficiency
• Common variable immunodeficiency
• Ataxia-telangiectasia
• Wiskott Aldrich syndrome
• DiGeorge syndrome
• Infection with HTLV-1

Age greater than or equal to 18 years.

Participant must be able to understand and sign informed consent.

Participants who will undergo apheresis must have hematocrit greater than 28%, and platelet count greater than 50,000.

Subjects for whom apheresis is desired but whose counts are lower than those above must be evaluated and approved by a Department of Transfusion Medicine consult physician.

Weight greater than 25 kg is necessary for apheresis.

Exclusion criteria

Overall Exclusion Criteria:

Pregnant women will not be eligible for any aspect of this protocol.

Exclusion criteria

for Apheresis Alone:

Any diagnosed medical condition which may be worsened by the apheresis procedure. Specifically the participant should not have any of the following:

• Congestive Heart Failure
• History of angina
• Severe hypotension (at the discretion of the participant's physician, the apheresis staff and the attending physician from the Department of Transfusion Medicine (DTM) per DTM Standard Operating Policies.)
• Poorly controlled hypertension (average baseline blood pressure greater than 160/90)
• History of a coagulation protein disorder.

Pediatric patients (less than 18 years) will not undergo apheresis.