Active clinical trials for "Immunologic Deficiency Syndromes"

The goal of the proposed research is to observe the prevalence and establish the validity of a newborn screening method for severe combined immunodeficiency (SCID). The assay to be used is developed on the basis of PCR quantification of T-cell receptor excision circles (TRECs) that is absent in SCID patients, thus correlating with the disease.

Some Primary Immune Deficiencies can be associated with an inflammatory bowel disease, mimicking Crohn disease : the Chronic Granulomatous Disease (CGD), the XIAP deficiency, and the TTC7A deficiency. This inflammatory bowel disease is frequent but inconstant, raising questions about other factors contributing to the disease. The aim of our study is to analyze, describe and compare the gut microbiota of patients with those primary immune deficiency, with or without intestinal disease. The investigators can expect, in the long term, to compare on a same patient, the gut microbiota evolution, and to assess the role of gut microbiota modifications on the onset of an inflammatory bowel disease.

Background: People who have certain immune system diseases often need a procedure called allo HSCT. This is short for allogeneic hematopoietic stem cell transplant. This might cure people with these diseases. Many people who need allo HSCT need donors who are relatives with similar genes. But the disease may also affect those in the donor pool. This may mean there are fewer options for people with inherited diseases. Researchers want to collect data on how transplant candidates and their donors are found. Objective: To find out how genetic diseases and the ways they are inherited affect the breadth of options for allo HSCT donors. Eligibility: Records from studies that have already been done. These will be for people ages 4 and older who were evaluated for allo HSCT or to be donors. Design: Participants already signed a consent form for their records to be shared. Researchers will study the participant data. Data will be stored in an electronic system. Researchers will use passwords to protect the data.

The primary purpose is to provide access for patients who have immunodeficiency or severe autoimmune disease related to poor thymic function to cultured thymus tissue for implantation. With no thymus function, bone marrow stem cells do not develop into educated T cells, which fight infection. Eligible participants receive cultured thymus tissue for implantation and may undergo biopsy. Immune suppression may be given depending on the immune status and clinical condition of the participant. Immune function testing is continued for one year post-implantation.

The availability of HIV care and treatment programs is increasing in sub-Saharan Africa. However more than half the patients who need HIV treatment are still not receiving antiretroviral therapy (ART). This can lead to early death from AIDS. Additionally, many patients start ART late after the HIV disease is very advanced. This results in high death rates soon after starting ART. The factors that contribute to late ART initiation are still unclear. This study will identify factors that help patients to enroll or prevent them from enrolling into HIV care and starting ART on time. We will examine the characteristics of all patients initiating ART at study sites. We will also look at potential risk factors among patients who initiate ART late (cases) compared to patients who initiate earlier (controls) at 6 HIV care and treatment clinics in Ethiopia. Data will be collected using 2 methods: Face-to-face interviews with participants using questionnaires Obtaining clinical data from the electronic patient-level database Identifying factors that help patients to start or prevent them from starting ART on time will help to direct interventions, programs and policies to reduce early death.

This is an observational, non-comparative, multicenter, open-label study. Participants will be treated with Raltegravir according to standard clinical practice, and monitored over a total period of 96 weeks. In an extension to the study (Amendment 1), a new cohort of aging participants (≥ 50 years) will be recruited and monitored over a total period of 48 weeks. Participants who stop taking Raltegravir before the end of the 96-week period or 48-week period, respectively, will be followed up for 3 months after discontinuing the drug. The primary objective is to determine the proportion of participants with a human immunodeficiency virus (HIV)-1 viral load < 50 copies/mL after 48 weeks of treatment with Raltegravir.

This study is a retrospective chart review of the use of subcutaneous IgG (SCIG) in infants less than two years old.

The purpose of this study is to assess retinal nerve fiber layer thickness and macular thickness measured with optical coherence tomography (OCT) on patients infected by HIV virus without ocular manifestations and to correlate these results with perimetric findings assessed by frequency doubling technology perimetry (FDT).

The goal of the proposed research is to establish the validity of a newborn screening method for severe combined immunodeficiency (SCID). The assay to be used is developed on the basis of PCR quantification of T-cell receptor excision circles (TRECs) that is absent in SCID patients, thus correlating with the disease

Data will be extracted from the National Taiwan University Hospital (NTUH) medical records database, geocoded according to the street address so that the case number, incidence, etc could be mapped. The spatial data would be used to detect the aggregation of HIV cases, existence of "hot spots" and then determine if they may merit further investigation or may have occurred by chance. The results from these GIS-based analyses would address local variations in HIV prevalence and transmission.