IPEX typically presents during the first few months of life with diabetes mellitus, intractable diarrhea, failure to thrive, eczema, and hemolytic anemia.
[2] In addition to autoimmune diseases, individuals experience higher immune reactivity (e.g. chronic dermatitis) and susceptibility to infections.
It manifests itself as a higher susceptibility to infections, eczema, more frequent development of autoimmune hemolytic anemia, neutropenia and arthritis.
Mutations tend to be in genes for cytokines (such as IL-7), TCRs, or proteins important for somatic recombination and antigen presentation.
CTLA-4 is essential for the negative regulation of the immune response and its loss leads to dysregulation and autoimmune diseases.
In individuals, the disease may manifest itself differently, with in some cases only a partial reduction in the number of Tregs, in others the ability to bind CTLA-4 ligand has been reduced, resulting in disruption homeostasis of effector T and B cells.
are at higher risk of cardiovascular disease, type II diabetes, osteoporosis, rheumatoid arthritis and other problems associated with immune dysregulation in adulthood.
[11] In aging of the immune system is also a decrease in central tolerance and an increase in the number of autoreactive T cells.
[12] In old age, the ability to heal wounds also decreases, leading to a susceptibility to further infections at the site of injury.
[14] The aging of the immune system is also supported by chronic infections, oxidative stress, or the production and accumulation of reactive oxygen species (ROS).
However, the ability to break down toxic substances and the resulting impact on the organism is also related to the metabolism and genetic equipment of the individual.
Toxins can act directly on the cellular component of immunity, or by their metabolites, or they can promote reactive oxygen species (ROS) in the body, or by depletion of antioxidants or oxidative stress.
Higher mucus production then creates stronger barrier protection and supports runny nose, coughing, or sneezing.
Removal of the allergen from the body by sneezing, coughing, vomiting, or diarrhea is enabled by the activation of peristalsis and contractions of the smooth muscles of the digestive and respiratory systems.
This is also related to hearing the flushing of antigens in the eyes or to attempts to achieve mechanical removal of the surface of the organism.
Some theories support the view that allergies enter as protection against environmental substances that can disrupt the body, such as insect venom.
[17] Another environmental factor that may promote the predisposition to allergies is a reduction in the diversity of the microbiome – this affects the diet of individuals, but also the diet of the mother during pregnancy, method of delivery, breastfeeding, antibiotics, and the presence of domestic or farm animals in the normal life of individuals.