Many of the rare diseases are caused by a genetic mutation(s) that most often affect the immune system causing disorders such as alopecia areata, autoimmune thyroiditis, Behcet’s disease, systemic lupus erythematosus, rheumatoid arthritis, life-threatening infections and other autoimmune disorders. Primary ImmunoDeficiency Diseases (PIDDs) have one of the highest prevalence in Finland; e.g. common variable immunodeficiency (CVID), the most common PIDD, has the highest recorded prevalence in Finland.
Since 2012 there has been an ongoing research program focusing on Finnish pediatric and adult PIDD patients. During this program we have been able to identify disease causing mutations in severe primary immune deficiency families. Many of the mutations are in genes affecting the key signaling effectors. These effectors involve components of the PI3K, NFkB, STING, JAK/STAT pathways. In addition to identifying the disease-causing mutations, we aim to utilize novel genomics methods in diagnostics of PIDD patients.
Currently we know which genes are mutated, but there are no established diagnostics tools to reveal the underlying disease mechanisms and biological pathways in these patients. Our goal is to study the disease mechanisms, characterize the mutation caused cellular perturbations, and finally provide more targeted medical care for these patients. We have already succeeded to provide better and more effective personalized health care for our patients, as proven by our recent publications.
References:
Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.
J Allergy Clin Immunol. 2019 Nov;144(5):1364-1376. DOI
Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes.
J Allergy Clin Immunol. 2017 Sep;140(3):782-796. DOI
Novel TMEM173 Mutation and the Role of Disease Modifying Alleles.
Front Immunol. 2019 Dec 5;10:2770. DOI
Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease.
NPJ Genom Med. 2019 Jun 27;4:14. DOI