View clinical trials related to Infections.
Filter by:The Hyper IgE Syndromes (HIES) are primary immunodeficiencies resulting in eczema and recurrent skin and lung infections. Autosomal dominant Hyper IgE syndrome (AD-HIIES; Job's syndrome) is caused by STAT3 mutations, and is a multi-system disorder with skeletal, vascular, and connective tissue manifestations. Understanding how STAT3 mutations cause these diverse clinical manifestations is critical to our complete understanding of bone metabolism, bronchiectasis, dental maturation, and atherosclerosis. Bi-allelic mutations in DOCK8 cause a combined immunodeficiency previously described as autosomal-recessive Hyper IgE syndrome. These individuals suffer from extensive viral infections as well as have a high incidence of malignancy and mortality. The pathogenesis of this disease and long-term natural history is being investigated. Therefore, we seek to enroll patients and families with a confirmed or suspected diagnosis of HIES syndrome for extensive phenotypic and genotypic study as well as disease management. Patients will be carefully examined by a multidisciplinary team and followed longitudinally. Through these studies we hope to better characterize the clinical presentation of STAT3-mutated HIES, DOCK8 deficiency and other causes of the hyper IgE phenotype, and to be able to identify further genetic etiologies, as well as understand the pathogenesis of HIES. We seek to enroll 300 patients and 300 relatives.
The purpose of this study is to evaluate, treat and follow patients with parasitic infections. People with a known or suspected parasitic infection who are at least 1 year old may be enrolled. This study does not involve any experimental treatments. Participants will have a physical examination and laboratory tests on blood, stool, or urine. Blood samples may be collected at regular intervals, but no more than 450 ml (15 ounces) of blood will be drawn from adults, and no more than 7 ml (1-1/2 teaspoons) per kg (2.2 pounds) of body weight from children, in any 6-week period. Other tests may include x-rays, electrocardiogram (EKG), or tissue biopsy (surgical removal of a small tissue sample), depending on the individual s condition. Patients may be offered treatment or may be referred to another study that is more appropriate for the problem. Any treatment provided in this study will be according to standard medical practice for the patient s specific medical problem. Patients responses to treatment will be evaluated at regularly scheduled clinic visits. The length of time between visits and the total duration of the study for a given individual will be determined by the study doctor, based on that person s medical condition. ...
This study will follow the course of disease in previously healthy patients with cryptococcosis who developed the disease for no identifiable reason. Participants may be followed for up to 5 years. Individuals with a positive Cryptococcus (neoformans or gattii) culture that are 18 years of age and older without HIV infection or other condition predisposing to cryptococcosis (such as high-dose corticosteroid therapy, sarcoidosis, or a blood cancer) may be eligible for this study. Genetic relatives and healthy volunteers are also eligible for this study. Candidates who test positive for HIV infection may not participate. Study participants have the option to be completely remote through tele-health visits with cooperation from their PCP and local physicians, or participate through in-person visits at the NIH Clinical Center. Potential participants will have a physical examination, past medical and family history evaluations, routine laboratory tests, and assessment of disease activity performed during the initial screening and enrollment visit. Patients who have active cryptococcosis may also have a lumbar puncture (spinal tap), imaging, and/or additional laboratory tests performed, as clinically indicated. After the initial screening evaluation and study enrollment, patients receiving treatment for cryptococcosis can either continue to be seen remotely through tele-health visits, or they can come to the NIH Clinical Center as needed to manage their disease, typically no less than every 3 months. Other patients will be seen every 6 to 12 months. These follow-up visits may include a medical history, physical examination, routine laboratory tests, imaging, and updates to their treatment plan as indicated.
The purpose of this this study is to learn more about the immune system, how it responds to infections (like HIV) and to learn more about conditions that may decrease your immune system s ability to fight infections. The primary procedure to be performed is venipuncture and blood drawing. The blood will be used for a variety of studies looking at immune dysfunctions and at the effects of HIV or other infectious and noninfectious conditions on the production of factors by immune cells. In addition, the cells in the blood may be screened for genes that have missing pieces or changes in them that can affect their function. This will help us evaluate specific immune responses for research purposes. This study will examine the effects of HIV infection on substances produced by immune cells that increase or decrease HIV infection. Both people living with and without HIV may be eligible for this study. Participants will be required to have a yearly medical evaluation, including blood tests for cell counts and chemistries, a blood or urine pregnancy test for women, and other laboratory tests as medically indicated or for research purposes. Participants will donate blood or reproductive fluids, or both. From 20 to 150 cc (4 to 30 teaspoonfuls) of blood will be drawn from the arm using a small needle. Participants may be asked to provide blood samples on more than one occasion over the course of the study. No more than 450 cc (less than 1 pint) of blood will be drawn during any 6-week period. Males will be given a private room for semen donation; fluid from females will be collected with a cotton swab after speculum insertion. Participants may also be asked to have a buccal swab. For this procedure, the inside of the cheek is gently scraped with a blunt-ended stick or brush to obtain cells (buccal mucosal cells). The tissues will be used for a variety of studies on the effects of HIV infection on factors that increase or decrease HIV infection. Some of the tissues collected for this study may also be used for the following tests: - Hepatitis screening Blood may be screened for different types of viral liver infections, such as hepatitis A, B, C, D, E, or G. - Genetic testing We will use genetic tests that focus on specific genes that can affect how the immune system works or to learn more about HIV and other conditions being studied. We may test the DNA in the cells in the blood or in cheek cells for the presence of mutations or deletions. These alterations may be sought in genes encoding factors that are linked to the immune system s ability to fight infection and prevent disease, or factors that allow HIV and other infectious agents to cause infection. from blood or cheek cells may be examined for mutations or deletions that affect chemokines, cytokines and a family of enzymes called caspases. Chemokines and cytokines are important mediators of the immune response. Alterations in the genes for some of these substances influence HIV infection. - HLA testing Blood may be tested for HLA type-a genetic marker of the immune system. These tests may be used to try to identify factors associated with the rate of progression of HIV disease or related conditions. Determining HLA type is necessary to be able to perform certain research studies. Some HLA types have been associated with an increased risk of certain diseases like arthritis and other rheumatologic problems.
This study will evaluate and treat patients with filarial infections to explore in depth the immunology of the disease, including susceptibility to infection, disease development, and response to treatment. Filarial infections are caused by parasitic worms. The immature worm (larva) is transmitted to a person through a mosquito bite and grows in the human body to 2 to 4 inches in length. Although many of these infections do not produce symptoms, especially in the early stages of infection, others can have serious consequences, including swelling of the limbs or genitalia, allergic-lung problems, skin rash, eye inflammation that can lead to blindness, and heart disease. This protocol does not involve any experimental diagnostic procedures or treatments, and will use only procedures employed in the standard practice of medicine. Persons between 3 and 100 years of age diagnosed with or suspected of infection with Wuchereria bancrofti, Bugia malayi, Onchocerca volvulus, Loa loa, or other parasitic worms may be eligible for this study. Participants will have routine tests to determine the specific type of filarial infection. These may include special tests of the lungs, skin or heart, depending on the type of parasite suspected. Patients with skin reactions may have a "punch biopsy" to examine a small piece of affected skin. For this procedure, an area of skin is numbed with an anesthetic and a small circular area, about 1/3-inch in diameter and 1/2-inch thick, is removed using a sharp cookie cutter-type instrument. Some patients may require bronchoalveolar lavage. For this procedure, the mouth and throat are numbed with lidocaine jelly and spray and, if needed, a sedative is given for comfort. A small plastic tube is placed in a vein to give medications. A pencil-thin tube is then passed through the nose or mouth into the lung airways to examine the airways. Salt water is injected through the bronchoscope into the air passage, acting as a rinse. A sample of the fluid is then withdrawn and examined for infection, inflammatory cells and inflammatory chemicals. (Bronchoalveolar lavage is done only if medically necessary and only on patients 21 years or older.) Once the diagnosis is established, standard treatment will be instituted with either diethylcarbamazine or ivermectin, depending on the type of infection. Additional procedures for research purposes include: - Extra blood draws to study immune cells and other immune substances. (This is the only research procedure that will be done in - More frequent and extensive follow-up evaluations than usual for routine care. They will include physical examination and blood studies. - Urine collections at specified periods, possibly including 24-hour collections. - Skin tests to examine the body s reaction to allergens-common environmental substances, such as cat dander or pollen-that cause an allergic reaction. The test is done in one of two ways: either the skin is lightly scratched and an allergen extract is placed over the just-broken skin, or a very fine needle is used to inject a small amount of allergen under the skin. In both methods, the site is monitored for swelling or hives in the next 48 hours. - Leukapheresis (only on patients 21 or older ) to collect quantities of white blood cells. Whole blood is collected through a needle in an arm vein, similar to donating blood. The blood circulates through a machine that separates it into its components, and the white cells are removed. The rest of the blood is returned to the body, either through the same needle or through another needle in the other arm.