Track topics on Twitter Track topics that are important to you
Primary immunodeficiency diseases (PIDs) consist of a large group of genetic disorders that affect distinct components of the immune system. PID patients are susceptible to infection and non-infectious complications, particularly autoimmunity. A specific group of monogenic PIDs are due to mutations in genes that are critical for the regulation of immunological tolerance and immune responses. This group of monogenic PIDs is at high risk of developing polyautoimmunity (i.e., the presence of more than one autoimmune disease in a single patient) because of their impaired immunity. In this review, we discuss the mechanisms of autoimmunity in PIDs and the characteristics of polyautoimmunity in the following PIDs: IPEX; monogenic IPEX-like syndrome; LRBA deficiency; CTLA4 deficiency; APECED; ALPS; and PKCδ deficiency.
This article was published in the following journal.
Name: Autoimmunity reviews
Advances in technology generate new opportunities to develop e-health tools to help individuals in self-management by assessing symptoms of illness and its relation to treatments. Self-management is c...
To assess the safety and efficacy of an intravenous immunoglobulin (IVIG) 10% preparation (Panzyga; Octapharma AG, Lachen, Switzerland) in predominantly antibody-deficient children with primary immuno...
Post-zygotic de novo mutations lead to the phenomenon of gene mosaicism. The three main types are called somatic, gonadal and gonosomal mosaicism, which differ on the body distribution of post-zygotic...
Primary immunodeficiency diseases (PIDs) are genetic disorders classically characterized by impaired host defense and an increased susceptibility to infection. It is now appreciated that these conditi...
Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency in adults. CVID is characterized by reduced serum levels of IgG, IgA, and/or IgM, recurrent bacterial in...
This study is a multicenter, prospective cohort study of patients diagnosed with respiratory monogenic diseases, the clinical information of recruited patients, including clinical manifest...
The objective of this project is to build a collection of biological samples consisting of fibroblasts and primary keratinocytes from patients with orphan monogenic diseases and to use the...
The purprose of this study is to develop a single test based on circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the familial mutation for a wide ra...
This is a Phase III, multicenter, open-label study of RI-002 administered as an intravenous infusion of RI-002 (IGIV) every 21 or 28 days in approximately 60 subjects with Primary Immunode...
90 genes related to Monogenic Stone Disease will be determined via DNA analysis by the Mayo Rare Kidney Stone Consortium (RKSC) research staff.
Thymosin. A family of heat-stable, polypeptide hormones secreted by the thymus gland. Their biological activities include lymphocytopoiesis, restoration of immunological competence and enhancement of expression of T-cell characteristics and function. They have therapeutic potential in patients having primary or secondary immunodeficiency diseases, cancer or diseases related to aging.
Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified.
Species of the genus LENTIVIRUS, subgenus primate immunodeficiency viruses (IMMUNODEFICIENCY VIRUSES, PRIMATE), that induces acquired immunodeficiency syndrome in monkeys and apes (SAIDS). The genetic organization of SIV is virtually identical to HIV.
A group of dermatoses with distinct morphologic features. The primary lesion is most commonly a papule, usually erythematous, with a variable degree of scaling on the surface. Plaques form through the coalescing of primary lesions.
A rare neoplasm of large B-cells usually presenting as serious effusions without detectable tumor masses. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. It is associated with HUMAN HERPESVIRUS 8, most often occurring in the setting of immunodeficiency.
Antiretroviral Therapy Clostridium Difficile Ebola HIV & AIDS Infectious Diseases Influenza Malaria Measles Sepsis Swine Flu Tropical Medicine Tuberculosis Infectious diseases are caused by pathogenic...