View clinical trials related to Job Syndrome.
Filter by:Reaching active aging makes it important to implement new methods affecting the biological age of a person. Biochemical parameters of a blood test are aging biomarkers that are ones of the most accessible for testing. We know that, with age, there is increase in levels of LDL, triglycerides, homocysteine and other biomarkers relating the body state. Methods of extracorporeal hemocorrection showed good results in this area. For instance, the use of plasmapheresis is very effective during prophylaxis, treatment and rehabilitation after various diseases/injuries. The main effects of plasmapheresis are related to removal of endo- and exotoxins, including products of lipid peroxidation, and to draining effect as a result of a heavy flow of interstitial fluid containing products of pathometabolism into the blood stream within concentration gradient (by "dynamic equilibrium" in concentration of different substances in intracellular, interstitial and intravascular compartments). These effects are also related to release of receptors, their sensitization to their own neurohumoral regulation mechanisms, to insulin, in particular (as consequences, lower glucose tolerance, lower substrate glycation).
Background: -DOCK8 deficiency is a genetic disorder that affects the immune system and can lead to severe recurrent infections and possible death from infections or certain types of cancers, including blood cancers. A stem cell transplant is a life-saving treatment for this condition. In this study we are evaluating the efficacy and safety of transplant from different donor sources for DOCK8 deficiency. The donors that we are using are matched siblings, matched unrelated donors, and half-matched donors, so called haploidentical related donors, such as mothers or fathers or half-matched siblings. Objectives: -To determine whether transplant of bone marrow cells from different types of donors corrects DOCK8 deficiency. Eligibility: - Donors: Healthy individuals between 2 and 60 years of age who are matched with a recipient. - Recipient: Individuals between 4 and 35 years of age who have confirmed DOCK8 deficiency, have suffered at least one life-threatening infections, or have had certain viral related cancers of cancer and have a stem cell donor. Design: - All participants will be screened with bloodwork, a physical examination and medical history. - DONORS: --Donors who have donate bone marrow cells or blood stem cells will have a sample of blood/bone marrow stored to be compared with the recipients sample after transplant. - RECIPIENTS: - Recipients receiving 10/10 matched related or unrelated donors will receive 4 days of chemotherapy with busulfan and fludarabine to suppress their immune system and prepare them for the transplant. Donors receiving 9/10 matched related or unrelated donors as well as haploidentical related donors will receive 5 days chemotherapy with cyclophosphamide, fludarabine, and busulfan. They will also receive one dose of radiation to suppress their immune system and prepare them for the transplant. - After the initial chemotherapy and radiation (if indicated), recipients will receive the donated stem cells as a single infusion. - After the stem cell transplant, recipients will receive two days of a chemotherapy called cyclophosphamide on day's + 3 and + 4 followed by two drugs tacrolimus and mycophenolate to prevent graft versus host disease where the donor cells attack the patient's body. All patients will remain in the hospital for at least approximately 1 month, and will be followed with regular visits for up to 3 years with periodic visits thereafter to evaluate the success of the transplant and any side effects.
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.