Active clinical trials for "Primary Immunodeficiency Diseases"

The purpose of the proposed study is to acquire additional data (including the assessment of anti-rHuPH20 antibodies) on the long-term safety of HYQVIA and to assess the prescribed treatment regimens and treatment administration in routine clinical practice.

The purpose of this study is to analyse the phenotype in a sub-population of adults with severe primary immunodeficiency with lymphoproliferation and neutropenia and to decipher the possible pathways involved, especially under the hypothesis of a CTLA4/LRBA schema

Patients with primary immunodeficiency disorders (PID) on intravenous immunoglobulin (IVIG) treatment may experience adverse events (AEs). Patients who experience AEs on any 10% IVIG solution will be changed to octagam 5% for six infusions to evaluate the potential benefit for reduction of AEs on a lower concentration IVIG product.

The management of patients with primary immune deficiency is increasingly codified, however contraception and pregnancy have not yet extensively studied or codified, and the medical monitoring and the prevention of infectious complications thus remains at the discretion of the practitioner. The aim the research is to study the obstetric features and outcome of patients with primary immune defects.

The purpose of this study is to evaluate patients with primary immunodeficiency disorders to identify patients with mutations of the genes for the following proteins: Jak3, STAT1, STAT4, interleukin-7, interleukin-7 receptor, interleukin-12 receptor subunits, and others. Patients will undergo screening history, physical examination, and clinical laboratory evaluation at referring institutions and tissue samples, or cell lines will be sent to the NIH. We will establish cell lines if necessary, prepare DNA and RNA for molecular genetic analysis and study cytokine signal transduction in patient cell lines.

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.

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 observational, multi-center, retrospective cohort study is to assess treatment patterns of Cuvitru (SCIG) 20 percent (%) and HyQvia (fSCIG) in polish pediatric participants with PID. The study will collect pediatric patient data. These data are gathered and collected during routine clinical care. As this is a non-interventional/observational study, no treatment/pharmacotherapy is provided as part of the study.

Background/Rationale: Epidemiological data about Primary Immunodeficiency Disorders (PIDD) in Kuwait is needed to better understand peculiarities and to compare them with other regions and ethnicity. Study hypothesis: PIDD is relatively common in Kuwait compared to populations from different geographic areas. The distribution of PIDD in Kuwait is different from other geographic areas with more severe forms being more frequent. Brief inclusion and exclusion criteria of study participants: PIDD patients presented at different clinics/hospital in Kuwait. Patients with secondary immunodeficiencies (drug induced, virus induced, and immunodeficiency associated with metabolic disorders... ect), will be excluded Estimated sample size of the study: All patients who were registered in KNPIDR since 2004 will be included in the study along with the new patients who will be recruited during the study period. Primary objectives: Determine the prevalence and frequency of different PIDD in Kuwait Identify clinical presentation patterns for PIDD in Kuwait Identify natural history of PIDD in Kuwait Help to asses epidemiology of PIDD in Kuwait Determine particularities about PIDD affecting the population in Kuwait Determine the health impact of PIDD in Kuwait Development of strategies to improve the care and the quality of life of patients with PIDD

Primary immune deficiencies (PID) are characterized by a failure of the immune system that is not explained by any infectious, neoplastic, or iatrogenic cause. In 2015, more than 300 different inherited rare disorders were described. The occurrence of PID in adult is rare and diagnosis may be supported by the 6 ESID signs for adult. However these warnings signs are based only on expert recommendations and do not include comprehensive symptoms of PIDs. Recurrent infections, more aggressive, are the most common mode of revelation of the PID. Less frequently, autoimmune manifestation, solid tumor, lymphoproliferation tumor, chronic granulomatosis or hemophagocytic lymphohistiocytosis syndrome (HLS) may also revealed a PID. The objective of this study was to evaluate the occurrence of unknown PID in adult admitted in critical care unit and to determinate if the investigation of PID in patients with severe infections or HLS should be routinely performed in MCIU.