Active clinical trials for "Immunologic Deficiency Syndromes"

Background: The immune system is the part of the body that fights infection. Some people have immune deficiencies that cause skin rashes, make them get sick often with infections, or make it difficult for their skin to heal. Researchers want to learn more to better treat conditions that affect immune response. Objective: To learn about how the immune system and skin healing are related to each other. Eligibility: People ages 18-75 with primary immune deficiency, eczema, or psoriasis. Healthy volunteers are also needed. Design: Participants will be screened with a medical and medicine history and a physical exam. They may take a pregnancy test. Participants will discuss the medicines or supplements they take as well as skin products they use, such as soaps and lotions. Participants will have up to 4 skin biopsies taken from the forearm. A needle will inject an anesthetic into the skin where the biopsy will be done. A sharp tool that looks like a tiny cookie cutter will be used to remove a round plug of skin a bit smaller than the tip of a pencil. Participants will give at least 1 blood sample. Participants may have optional skin swab collection. A cotton swab will be used to swab the skin on the arm. Participants may have optional skin tape collection. A sticky strip of tape will be placed on the arm and then removed. Participants may give leftover samples taken as part of their regular medical care. Participation will last for about 4 days. Participants will have 2 visits that each last about 1 hour. They may be asked to repeat the study in the future.

Detailed description of immune response and its dynamics in sepsis and septic shock patiens by means of transcriptomics, flow-cytometry and cytokine analysis.

Background: - Researchers are interested in studying disorders that make individuals more susceptible to fungal infections, specifically infections with the Candida yeast. These disorders are often related to problems with the immune system and may have genetic factors, which suggests that researchers should study not only the individual with the disorder, but also his or her first- and second-degree relatives (such as parents, siblings, children, and first cousins). To provide material for future research, individuals with immune disorders and their first- and second-degree relatives will be asked to provide blood and other samples for testing and comparison with samples taken from healthy volunteers with no history of immune disorders. Objectives: - To collect blood and other biological samples to study immune disorders that make individuals more susceptible to fungal infections. Eligibility: Individuals of any age who have abnormal immune function characterized by recurrent or unusual fungal infections, recurrent or chronic inflammation, or other types of immune dysfunction. First- or second-degree genetically related family members (limited to mother, father, siblings, grandparents, children, aunts, uncles, and first cousins). Healthy volunteers at least 18 years of age (for comparison purposes). Design: Participants will provide blood samples and buccal (cells from the inside of the mouth near the cheek) samples. Participants with immune disorders will also be asked to provide urine samples, saliva or mucosal samples, or skin tissue biopsies, and may also have imaging studies (such as x-rays) to collect information for research. Samples may be collected at the National Institutes of Health or at other clinical locations for the samples to the sent to the National Institutes of Health. No treatment will be provided as part of this protocol....

The purpose of this study is to discover if differences in the surface markers of B-cells (antibody producing cells of the immune system) in Common Variable Immune Deficiency (CVID) are related to CVID or its complications/treatment (e.g. bronchiectasis, granulomatous disease, immunoglobulin treatment). The study hypothesis is that the altered B-cell surface markers are related to CVID, and not to the complications or treatment of CVID.

The investigators will utilize a systematic approach for the diagnostic evaluation of patients to identify characteristics which may distinguish between Primary Immunodeficiency (PID) disorders versus Primary Ciliary Dyskinesia (PCD).

Prospective registry study for children and young adults with severe immune cytopenias (persisting/chronic immune thrombocytopenia, autoimmune hemolytic anemia, and Evans syndrome) to improve the management, facilitate the differential diagnostic work-up, and document the clinical course under various treatments. Time points: at inclusion, after 6 months, after 12 months, then yearly up to 4 years after inclusion. No intervention, mere observation and documentation. Guided pre-inclusion (differential) diagnostic work-up.

Analysis of DNA samples of patients with molecularly undetermined PID by whole exome/genome sequencing. Transcriptome analysis of patients with molecularly undetermined PID.

Background: A person s genome is the collection of all their genes. A gene instructs individual cells to make proteins. Proteins are involved in all of our body s chemical processes. Genome sequencing allows researchers to find variations in genes. Some of these are normal and are not known to cause disease. Some variants are known to cause or affect diseases like cancer. Researchers want to study genetic variants in people with cancer who also have an immunologic disease like HIV. Objective: To study the biology of cancer in order to improve ways to prevent, detect, and treat it. Eligibility: Adults at least 18 years old with certain cancers and/or immunodeficiencies Design: Participants will be screened with medical history, physical exam, and lab tests. Participants will give samples of one or more tissue type. They may give blood or urine samples. Researchers may get samples of tissue when participants have surgery or when the participants are on other protocols in the NCI. Participants may have a procedure to have tissue samples removed. Researchers may collect data from participant medical records. Researchers will compare the genes in a participant s cancer tissue to their normal tissue. They may use the tissue cells to grow new cells in a lab. Participants may be contacted about the results. The samples will be stored for future research. No personal data will be kept with them. ...

Background: - Noncirrhotic Portal Hypertension (NCPH) is caused by liver diseases that increase pressure in the blood vessels of the liver. It seems to start slowly and not have many warning signs. Many people may not even know that they have a liver disease. There are no specific treatments for NCPH. Objectives: - To learn more about how NCPH develops over time. Eligibility: - People age 12 and older who have NCPH or are at risk for getting it. In the past year, they cannot have had other types of liver disease that typically result in cirrhosis, liver cancer, or active substance abuse. Design: Participants will have 2 screening visits. Visit 1: to see if they have or may develop NCPH. Medical history Physical exam Urine and stool studies Abdominal ultrasound Fibroscan. Sound waves measure liver stiffness. <TAB>- Visit 2: Blood tests Abdominal MRI Echocardiogram Questionnaire Liver blood vessel pressure (hepatic venous portal gradient (HVPG)) measurement. This is done with a small tube inserted in a neck vein. They may have a liver biopsy. All participants will visit the clinic every 6 months for a history, physical exam, and blood tests. They will also repeat some of the screening tests yearly. Participants with NCPH will also have: Upper endoscopy test. A tube inserted in the mouth goes through the esophagus and stomach. At least every 2 years: Esophagogastroduodenoscopy. At least every 4 years: testing including HVPG measurements and liver biopsy. Participants without NCPH will also have: Liver biopsy and HVPG measurements to see if they have NCPH. Every 2 years: abdominal MRI and stool studies. The study will last indefinitely.

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. ...