View clinical trials related to Immune Deficiency.
Filter by:Inborn Errors of Immunity (IEI) are a heterogeneous group of disorders characterised not only by an infectious diathesis, but by a wide variety of other clinical manifestations. Lymphoma is one of the most common malignancies in children and may be the first clinical manifestation of IEI, thereby 'hiding' the immune defect and delaying genetic/immunological diagnosis. Lymphomas, especially non-Hodgkin's lymphomas (NHL) are frequently associated with congenital defects of the immune system, in particular diffuse large B-cell lymphoma and Burkitt's lymphoma. Preliminary analyses conducted on 6 patients diagnosed with NHL allowed the identification of genetic variants in genes associated with IEI. In clinical practice, the diagnosis and choice of therapeutic treatment in patients with immunodeficiency-associated lymphoma are decisive and, due to the complex pathophysiology of the disease, it is not always possible to identify the boundary between benign and malignant proliferation. The identification of an undiagnosed immunodeficiency in patients with lymphoma will ensure the opportunity to apply targeted therapies, such as allogeneic haematopoietic stem cell transplantation, instead of standard clinical management based mainly on chemotherapy. The study aims to identify possible congenital defects of immunity, i.e. genetic disorders affecting the immune system, as responsible for the development of haematological malignancies. Through a multidisciplinary approach involving immunological analyses, genetic analyses and a thorough examination of clinical manifestations, we aim to characterise the immunological component underlying the development of paediatric lymphomas.
Moesin deficiency was initially described in 7 male participants aged 4 to 69 years and is characterized by lymphopenia of the 3 lineages and moderate neutropenia. Genetically, 6 out of 7 participants had the same missense mutation in the moesin gene located on the X chromosome. The 7th patient has a mutation leading to the premature introduction of a STOP codon into the protein.Clinically the 7 participants with X-linked moesin-associated immunodeficiency all presented with recurrent bacterial infections of the respiratory, gastrointestinal or urinary tracts, and some had severe varicella.Therapeutically, in the absence of a molecular diagnosis and due to his SCID-like phenotype, one patient was treated with geno-identical hematopoietic stem cell transplantation . The remaining are untreated or treated with immunoglobulin substitution and/or prophylactic antibiotics. Since this study, the moesin gene has been integrated into DNA chips used for the molecular diagnosis of immune deficiencies in several countries. Physicians in Canada, the United States, Japan, South Africa and Europe have contacted us with a total of 16 known participants to date. Because of their very low severe, uncontrolled CMV infection and the absence of treatment recommendations, two 2 American participants were treated with allogeneic transplantation with severe post-transplant complications (1), and one of the participants died as a result of the transplant. Management of XMAID participants therefore varies widely from country to country, depending on age at diagnosis and clinical picture. It ranges from no treatment treatment (associated with recurrent infections and skin manifestations), IgIv substitution and/or antibiotic prophylaxis antibiotic prophylaxis, with low toxicity and apparent efficacy, and allogeneic transplantation, with all the risks risks involved (graft-related toxicity, graft versus host, disease, rejection, risk of infection). The Investigators therefore feel it is important to review the diagnosis, clinical presentation and management of X-MAID participants. The study the investigator propose will enable to understand the presentation of X-MAID participants, establish guidelines and provide the best treatment for each patient according to his or her clinical picture
The purpose of the study was to investigate the impact of aerobic exercise combined with diet protocol on the immune system in post-mastectomy patients receiving chemotherapy.
This protocol is a natural history study designed to evaluate subjects (and some family members) with suspected or identified genetic diseases of allergic inflammation or Immune Dysregulation. Patients determined by clinical history and outside evaluations to be of interest will be consented and enrolled into this study. Blood specimens, stored blood products and derivatives, saliva, hair, fingernail clippings, cord blood, umbilical cord, bone marrow, tissue biopsies and/or buccal swabs from such patients and/or their family members will be obtained for research studies related to understanding genetic and immunopathogenic bases of these diseases. Outside medical records may be obtained, and patient evaluations may be performed to correlate to research laboratory testing results.
The overall goal of this proposal is to investigate effects of obesity on pharmacokinetics of immunoglobulin G (IgG) and to develop strategies for optimization of dosing of IgG in obese patients. There is an ongoing debate regarding the most appropriate dosing of IgG formulations in obese patients. Obesity poses significant health risks; and evidence supporting dosing strategies of IgG in obese patients is inadequate. Some of the adverse reactions have been attributed to a relative overdosing in these patients, due to a limited distribution of IgG into fat tissue.
We aimed to find out whether the tonsils and nasal tissues of pediatric patients are the main factors that protects the children's immune system against COVID-19 infection.
Detailed description of immune response and its dynamics in sepsis and septic shock patiens by means of transcriptomics, flow-cytometry and cytokine analysis.
The main objective of our project is to investigate the evolution of psychosocial, cardiovascular and immune markers in healthcare with different levels of exposure to the COVID-19 pandemic.
Background : The occurrence of Primary immune deficiencies (PID) is rare in adults. Antibody deficiencies were the first PID to be diagnosed in adulthood and are mainly represented by common variable immune deficiency. The main manifestation of these PID are encapsulated bacterial infection which used to be recurrent and/or invasive, lead to hospitalization and have high rates of morbidity and mortality. Diagnosis of PID in adulthood may be supported by six warning signs from the European Society of Immunodeficiencies (ESID). However, their guidelines do not comprehensively describe symptoms of PID, even for patients with infections. The guidelines recommend screening adults for PID after at least two severe bacterial infections. The aim of this study is to screen for PID adult admitted to our hospital for encapsulated infection without any predisposal factor. Material and methods : - Monocentric study. Inclusion between September 218 and September 2021 - Inclusion criteria : 1. Age 18 to 65 years old 2. Invasive encapsulated infection (Streptococcus pneumoniae, Streptococcus pyogènes, Haemophilus influenzae, Neisseiria meningitidis or Neisseria gonorrhoeae ) - Exclusion criteria : 1. Medical history of PID 2. Medical history of Secondary immune deficiency (SID) 3. Local-regional factor that could predispose them to infection 4. Hospital-acquired infection - PID screening included the following: complete blood count, blood smear, immunoglobulin (Ig) isotype (IgA,M, G) and IgG subclass levels, total hemolytic complement and complement fractions (C) 3 and 4, alternative complement pathway (AP50) in case of Neisseria meningitidis (NM) infection, quantitative immunophenotyping of T, B and natural killer cells, specific antibody response to diphtheria, tetanus and pneumococcal vaccine and HIV serology. The clinical and laboratory diagnostic criteria used to identify PID were based on guidelines from the ESID and the Pan-American Group for Immunodeficiency (PAGID) - A consultation in the infectious Diseases Department or Internal Medicine will be scheduled the hospitalization 3 months later to include patients and perform PID screening.
1. The purpose of this study is to learn more about the changes in genes, cells and proteins that cause immune deficiency diseases. 2. The early stages of the study will focus on two groups of patients: 1. members of families in which several persons have symptoms or medical histories that suggest immune deficiency. 2. Patients who have received treatments with medications or drugs that affect functions of the immune system (secondary immune deficiencies). It is hoped that studies will provide guidelines for extension of the research to other patient groups. Up to 200 patients and family members will be invited to participate.