Active clinical trials for "Immunologic Deficiency Syndromes"

The immune system is an intricate system comprised of specialized cells, proteins, tissues and organs. Proper functioning is critical to the body's ability to defend itself against harmful pathogens. Immunological disorders and deficiencies are defects in the immune system that lead to abnormal immune responses. Abnormal immune responses could be derived from immune deficiencies, dysregulations or hypersensitivities. The overall goal of this research study is to identify the mechanisms of primary immune deficiencies and immune disorders at the genetic, cellular and molecular level, using novel analytic techniques to be performed on immune cells derived from blood samples. The knowledge gained from the aims of this study could lead to better diagnostics and identify novel targets for therapeutic interventions.

This study is a prospective cohort study of children diagnosed with primary immunodeficiency disease (PID). The aim is to investigate the clinical characteristics and prognosis of PID in Chinese children.

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.

The meningococcal quadrivalent conjugate vaccine (MenACWY) and the licenced multicomponent MenB vaccine (Bexsero®) have already been included in the Italian childhood immunization programme and recommendations for high risk categories have been also implemented. As by NIP, vaccination against MenB with either 4CMenB or fHbp-MenB is offered for free for several conditions including subjects with severe primary or secondary immunodeficiency. In Liguria Region meningococcal vaccination is actively offered to several chronic conditions including asplenia, patients with lymphoproliferative disease (also HSCT), subject treated with anti-CD20 mAb and HIV-positive. In Liguria Region there is a large diverse population with risk condition that, as by national and regional recommendation, receive meningococcal vaccination. For some of them, i.e. asplenic and complement deficiencies groups, evidence have been generated through an ad hoc clinical trial, while for other important groups there is clear need of immunogenicity data. In the proposed study, the Investigators plan to administer two doses of MenB vaccine (Bexsero®), 1-2 months apart, to adult patients living in Genoa area and belonging to following categories: Bone marrow transplant (HSCT patient) HIV positive Alfa-CD20 subjects (i.e. Patients candidates for / in treatment with biologic drugs such as Rituximab). Immunogenicity data will be then obtained from sera collected at the day of the first Bexsero dose and one month after the immunization course by Serum Bactericidal Activity (SBA) assay.

CORIA is an observational cohort study of immunosuppressed populations who test positive for COVID-19. This includes people living with HIV, cancer, acquired immunodeficiency associated with other immunosuppressive therapy, primary immunodeficiency and recipients of a solid organ transplant. Participants will have routine clinical data collected with optional baseline collection and storage of a blood sample for storage . The study will be conducted in up to 30 sites within Australia.

The investigators wish to characterize alterations in the architecture and function of immune cells in patients with a primary immunodeficiency that also develop inflammatory bowel disease. In addition, The investigators' goal is to characterize the microbiome of these patients, in order to determine whether specific microbial alterations are related to inflammation.

The molecular mechanisms participating in the various aspects of the DNA Damage Response (DDR) are absolutely essential to maintain the genome dynamics essential to all living organisms. The most commonly studied consequence of faulty DDR is genome instability participating in cancer onset. In the present proposal, we wish to explore another aspect of DDR, not relevant to cancer, which is its absolute requirement at several key steps of the development, maturation, and function of the immune system. The most "spectacular" consequences of faulty DNA repair processes with respect to the immuno-hematopoietic tissue are the complete block of B and T lymphocytes maturation owing to defective DNA joining phase during V(D)J recombination resulting in patients with Severe Combined Immune Deficiency (SCID). The objectives of this study are to increase our knowledge on the role of the various DNA repair processes in the development, the maintenance, and the function of the immune system and thus, to better understand why and how dysfunctions of these DNA repair processes result in human severe conditions such as CVID, LOCID or other manifestations of immune disorders such as autoimmunity. The explorations of DNA repair mechanisms in the patients will allow us to establish the genetic diagnosis in some patients with until now undefined molecular diagnosis. This is of immediate importance for the patients and their families, as it not only contributes to a better understanding of the patients' condition, but also allows providing genetic counseling for the families.