Genetic Analysis of Immune Disorders
| Status: | Enrolling by invitation |
|---|---|
| Conditions: | Healthy Studies, Other Indications, Infectious Disease, HIV / AIDS |
| Therapuetic Areas: | Immunology / Infectious Diseases, Other |
| Healthy: | No |
| Age Range: | Any - 99 |
| Updated: | 3/7/2019 |
| Start Date: | October 22, 2007 |
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.
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.
This protocol includes studies of genetic defects of the immune system that cause failure of
host defenses against infections, immune dysregulation and autoimmune diseases. Numerous rare
disorders result from inherited or newly arising mutations in genes involved in the
development and function of innate and adaptive immune systems or both. 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 within the same genetic defect. Rare, single gene disorders identify immunologic
pathways that might contribute to more common conditions, such as failure to respond to
vaccines, 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. Immunologic tests and DNA sequence analysis appropriate to each clinical
condition will be performed as needed on affected individuals and at risk family members.
Healthy family members may serve as controls. Probands, parents of deceased affected
individuals, or entire families, may be referred to the Investigators Initially, clinical and
family history as well as laboratory data will be reviewed by the investigators to determine
eligibility. Subjects considered appropriate will be invited through their referring
physician to participate by signing our consent form and sending appropriate blood, DNA or
other samples to our PI. Should a genetic basis for an individual s immune disorder be
identified or if clinical eligibility for other protocols is met, they may be invited to
visit NIH.
host defenses against infections, immune dysregulation and autoimmune diseases. Numerous rare
disorders result from inherited or newly arising mutations in genes involved in the
development and function of innate and adaptive immune systems or both. 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 within the same genetic defect. Rare, single gene disorders identify immunologic
pathways that might contribute to more common conditions, such as failure to respond to
vaccines, 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. Immunologic tests and DNA sequence analysis appropriate to each clinical
condition will be performed as needed on affected individuals and at risk family members.
Healthy family members may serve as controls. Probands, parents of deceased affected
individuals, or entire families, may be referred to the Investigators Initially, clinical and
family history as well as laboratory data will be reviewed by the investigators to determine
eligibility. Subjects considered appropriate will be invited through their referring
physician to participate by signing our consent form and sending appropriate blood, DNA or
other samples to our PI. Should a genetic basis for an individual s immune disorder be
identified or if clinical eligibility for other protocols is met, they may be invited to
visit NIH.
- INCLUSION / EXCLUSION CRITERIA:
Probands and their blood relatives, of any age, gender, and ethnicity, who are affected, or
suspected of being affected with genetic conditions and immune dysregulations under study
are eligible to enroll as patients and family member enrollees.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
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