Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death

Status:	Recruiting
Conditions:	Infectious Disease, HIV / AIDS, Women's Studies, Endocrine
Therapuetic Areas:	Endocrinology, Immunology / Infectious Diseases, Reproductive
Healthy:	No
Age Range:	Any
Updated:	4/6/2019
Start Date:	October 26, 2005
Contact:	Helen F Matthews
Email:	matthewsh@mail.nih.gov
Phone:	(301) 443-8080

This study will determine the biochemical and genetic causes of inherited immune diseases
affecting lymphocyte homeostasis. Lymphocytes are a type of white blood cell that fights
infections. Normally, the body keeps a precise balance in which lymphocyte growth is matched
by lymphocyte death. People with constantly enlarged lymph nodes or spleen, along with
autoimmune disease, immunodeficiency, lymphoma, or other immune problems affecting
lymphocytes may have an abnormality of the immune system in the cell growth and cell death
processes that regulate lymphocyte homeostasis.

Patients who have, or are suspected of having, an inherited lymphocyte homeostasis or
programmed cell death susceptibility syndrome may be eligible for this study. Relatives of
patients are also included.

Participants' (patients and relatives) medical records are reviewed and blood samples are
drawn for studies to identify genes involved in immune disorders. Tissues that have been
removed from patients for medical reasons, such as biopsied tissues, may be examined for
tissue and DNA studies. Relatives are studied to determine if some of them may have a very
mild form of lymphocyte homeostasis disorder.

Patients who have an immune problem that the researchers wish to study further will be
invited to donate additional blood samples at irregular intervals (at least once a year) and
to provide an update of their medical records at the same time.

This protocol is designed to screen patients with suspected or identified genetic diseases of
immune cell homeostasis, reflecting abnormalities in programmed cell death, survival,
development activation, and/or proliferation. Patients determined by clinical history and
initial outside evaluation by their referring physician to be of interest will be consented
and enrolled into this study. Blood specimens from such patients or their family members will
be obtained for research studies related to understanding the genetic and biochemical bases
of these diseases. Outside medical records will be obtained for chart review to correlate
clinical history to research laboratory testing results. Results will be relayed to the
referring physicians and where applicable patients will be referred to other appropriate NIH
protocols for additional clinical evaluation and treatment. The study will enroll up to 5000
patients and family members over the next 10 years.

- INCLUSION CRITERIA:

Patients known to have or suspected of having an inherited immune cell homeostasis,
programmed cell death susceptibility syndrome, lymphocyte developmental block, or defective
immune cell effector functions will be eligible for enrollment. In the latter case, because
of the intensive time and labor required for research laboratory testing, patients will be
enrolled only if in the opinion of the investigator there is a high index of suspicion.
Blood relatives of enrolled patients will be eligible for enrollment. There will be no
limit as to age, sex, race or disability.

EXCLUSION CRITERIA:

The presence of an acquired abnormality, such as HIV, cytotoxic chemotherapy, or malignancy
may be grounds for possible exclusion if, in the opinion of the investigator, the presence
of such a disease process interfered with evaluation.

Severely debilitated health status or poor venous access may also preclude obtaining
adequate specimens for analysis.

Within the limits of maximal acceptable blood draw volumes and minimum requirement for core
laboratory tests (9 ml of blood for V.A.2a and b), the cutoff weight for infants permitted
in this protocol is 3 kg and above.

We found this trial at

sites

Hacettepe University

Ankara,

from

Ankara,