how is a vertebrate immune system genetically controled?

Answer 1

These PDFs should help: http://www.springerlink.com/index/Q40466RT50002V48.pdf
http://iai.asm.org/cgi/reprint/63/8/2892.pdf. Good luck pal!

Answer 2

Genetic Analysis of Immune Disorders

This study is currently recruiting patients.
Verified by National Institutes of Health Clinical Center (CC) January 2007
Sponsors and Collaborators: National Institute of Allergy and Infectious Diseases (NIAID)
National Human Genome Research Institute (NHGRI)
Information provided by: National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier: NCT00001467

Purpose

The purposes of this study are to 1) identify the genes responsible for certain immune disorders, 2) learn about the medical problems they cause, and 3) learn how to predict who is likely to develop these disorders and what the risk is of passing them on to children. The immune system is the body's defense system. Some immune deficiencies impair a person's ability to fight infections; others render a person susceptible to allergies, or to autoimmune diseases such as lupus or arthritis, in which the immune cells (white blood cells) attack and destroy the body's own tissues.

Patients with immune disorders known or suspected to have a genetic basis and their family members may enroll in this study. Eligibility will be determined by a review of the patient's medical records and family medical history. Participants will provide a small blood sample for genetic (DNA) and white blood cell analysis. Gene samples (but not white blood cells) may also be obtained by mouth brushing or skin biopsy. For the mouth brushing, a small brush is rubbed against the inside of the cheeks for 1 minute to wipe off some cells. For the skin biopsy, a small circle of skin (about 1/8 inch) is removed under local anesthetic. Pregnant women may be asked to provide a fetal sample (amniotic fluid cells or chorionic villus sample). All samples will be used for immune or genetic studies of the family's immune disorder.

If test results show a specific genetic variation responsible for the family's immune disorder, a report will be sent to the patient's doctor or genetic counselor, who will discuss the implications for the family. NIH researchers and genetic counselors will also be available to explain results and answer questions. Information will not be available in the case of disorders that cannot yet be linked to a specific genetic abnormality.

Information from this study will increase knowledge about the immune system and what causes immune deficiencies. Participants may also learn the underlying cause of an immune disorder that affects them or someone in their family-information may be useful in guiding treatment and in making decisions regarding family planning.
Condition
Healthy
Immunologic Deficiency Syndrome
Job's Syndrome
Severe Combined Immunodeficiency

MedlinePlus related topics: Blood and Blood Disorders; Immune System and Disorders
Genetics Home Reference related topics: Immune System and Disorders; X-linked severe combined immunodeficiency

Study Type: Observational
Study Design: Natural History

Official Title: Genetic Analysis of Immune Disorders
Further study details as provided by National Institutes of Health Clinical Center (CC):

Expected Total Enrollment: 3000

Study start: January 1995

This protocol includes studies of genetic defects of the immune system that cause failure of host defenses against infections or autoimmune diseases. Numerous rare disorders result from inherited or newly arising mutations in genes involved in the development and function of leukocytes, or white blood cells. As specific disease syndromes are defined and the responsible genes identified, mutations in individual families can be sought. Correlation of mutation sites with clinical information helps to determine how specific gene segments encode important functional domains of the proteins of the immune system. Rare, single gene disorders identify immunologic pathways that might contribute to more common conditions, such as failure to respond to vaccines or susceptibility to allergies or autoimmune diseases like arthritis or lupus.

Members of families with immune disorders that are known or suspected to have a genetic basis may be eligible. Genetic linkage studies will include all available family members, while immunologic tests and DNA sequence analysis appropriate to each clinical condition will be performed as needed on affected individuals. Healthy family members and unrelated volunteers will serve as controls. Probands, parents of deceased affected individuals, or entire families, are referred to the Principal Investigator (PI) by immunologists and geneticists worldwide. The extreme rarity of primary immune disorders makes it impossible to determine in advance which institutions or physicians will encounter these patients. Initially, clinical history, laboratory data and pedigrees are reviewed by the investigators to determine eligibility. Subjects considered appropriate are invited through their local physician to participate; the investigators connect self-referring families to a local provider for medical or genetic counseling and enrollment, consisting of signing our consent form and obtaining appropriate blood or other samples to be mailed to the PI. Only a minority of patients will visit NIH.

Eligibility
Genders Eligible for Study: Both

Accepts Healthy Volunteers
Criteria

* INCLUSION CRITERIA:

All affected patients or relatives of deceased affected patients who are referred will be considered for enrollment.

Priority will be given to families with informative composition for genetic studies, patients with extensive available documentation of phenotype, and diagnoses receiving emphasis in the laboratory program of the PI.

Healthy volunteers will be recruited as needed for control studies.

EXCLUSION CRITERIA:

Persons of any age, gender and ethnicity are eligible to enroll as patients, family member enrollees, and control volunteers.

Location and Contact Information
Please refer to this study by ClinicalTrials.gov identifier NCT00001467

Patient Recruitment and Public Liaison Office [phone] [e-mail]
TTY 1-866-411-1010

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike, Bethesda, Maryland, 20892, United States; Recruiting

United States, Utah
University of Utah, Salt Lake City, Utah, 84112, United States; Recruiting

Germany
University of Freiburg, Freiburg, Germany; Recruiting