Recently, a professional networking site directed me to a short note by Lisa Moreno-Dickinson, President of the stopcaidnow.org. The title of her article was “When Doctors Don’t Know How to Help From Misdiagnosis to No diagnosis … What Can a Parent Do?”.
CAID refers to Childhood Auto Inflammatory Diseases. These genetic disorders usually start in infancy or childhood and are reported to be the result of gene mutations. The periodic attacks of these conditions affect many different organ systems. They are characterized by sudden inflammation and fever onset, and symptoms such as rashes, headache, abdominal, chest, muscle, and joint pains, swollen joints and scrotum.
Much of the science suggests that these conditions are not autoimmune in nature. These individuals have no any significant elevations of autoantibodies, immunoglobulins, large immune molecules that are directed against self, nor activation of specific white blood cells.
Our knowledge of the complexities of the immune system, especially its inflammatory pathways, are still in their infancy as supported by the fact that cancer, colds, infectious, and chronic diseases are rampant.
I respectfully suggest that perhaps autoinflammatory investigators have not used the appropriate assay to find autoimmune responses because a) it does not exist yet, or b) it is difficult to “test for everything”.
A recent report suggests that there is an association between autoinflammatory conditions and mitochondrial health. Mitochondria are the power stations of a cell that provides it with the energy it needs to grow, divide, and “do its job”. They play major roles in healthy aging, degenerative diseases, cancer, and ultimately, cell death. The greater its metabolic or energy requirements, the more mitochondria a cell appears to have. As an example, a muscle cell may have thousands of mitochondria and a skin cell only a few hundred.
Antibodies to mitochondrial proteins have been reported in autism spectrum disorders, which are attributed to inflammatory conditions of the nervous system. Additionally children with severe autism have higher levels of inflammatory cytokines and certain immune molecules than controls.
In Blau’s syndrome, an autoinflammatory disease, symptoms are associated with the skin, joints, and eyes. It is often mistaken for sarcoidosis, a known autoimmune disease of the skin and other organs. Crohn’s disease is an inflammatory autoimmune bowel disease in which the immune system attacks its own digestive lining.
There are two genes, NOD1 and NOD2 that help regulate the production pro-inflammatory cytokines, immune molecules that cause inflammation. Mutations of these genes are found in a number of inflammatory disorders including Blau’s syndrome, sarcoidosis, and inflammatory bowel diseases.
Investigations of the pivotal role of gene regulation of inflammatory responses are underway; however, ways to neutralize the effects of such mutations may be years away.
Parents and clinicians do not have the luxury of just waiting. We know that inappropriate inflammatory responses are occurring in many, so why not determine whether the re-introduction of immune homeostasis, immune balance would make a difference in their quality of life?
www.ncbi.nlm.nih.gov/pmc/articles/PMC2735099/
www.ncbi.nlm.nih.gov/pubmed/16466630
www.ncbi.nlm.nih.gov/pubmed/21453638
www.ncbi.nlm.nih.gov/pubmed/21083929
www.ncbi.nlm.nih.gov/pubmed/21735170
www.ncbi.nlm.nih.gov/pubmed/18368292
www.ncbi.nlm.nih.gov/pubmed/21521652
www.ncbi.nlm.nih.gov/pubmed/21433392
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