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 U.
UNC93B Deficiency and TLR3 Mutations
UNC93B1 Deficiency and TLR3 Mutations are innate immune defects. UNC93B1 is a signaling molecule involved in the production of interferon, which is significant in the killing of viruses. Signaling through TLRs 3, 7, 8, and 9 normally induces production of interferons. UNC93B1 Deficiency and TLR3 Mutations can make one susceptible to encephalitis (inflammation of the brain) caused by the herpes simplex virus (HSV-1). This susceptibility occurs because of the decreased production of interferons in the central nervous system.
Credits: Immune Deficiency Foundation,
Unspecified Hypogammaglobulinemia
Unspecified Hypogammaglobulinemia is a dated term describing a patient with one or more deficiencies serum immunoglobulins. In some individuals, unspecified hypogammaglobulinemia could be a physiologic variant without significance; in other individuals it could indicate a developing immunodeficiency. In the case of the latter, the individual should be monitored, especially if the individual is developing recurring infections.
Credits: Immune Deficiency Foundation