Primary Immunodeficiency (PI) is an umbrella term for over 350 genetic defects and disorders of the immune system recognized by the World Health Organization. Together they affect approximately 29,000 Canadians. Primary Immunodeficiency is not considered a rare disease as a category, but each individual form of PI is rare.
There are currently 2 names in this directory beginning with the letter P.
Post-Meiotic Segregation (PMS2) Disorder
PMS2 gene mutation results in defective Ig class switching from IgM to IgG and IgA. The condition leads to low serum IgG and IgA with elevation in serum IgM. A visible symptom of PMS2 Disorder are light-brown spots on the skin. Individuals with the condition have a higher risk of developing several kinds of malignancies.
PMS2 Disorder is a very rare form of primary immunodeficiency.
Credits: Immune Deficiency Foundation