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 is currently 1 name in this directory beginning with the letter N.
NEMO Deficiency Syndrome
The NEMO deficiency syndrome is caused by genetic mutations in the X-linked NEMO gene, also known as IKK gamma or IKKG. The condition is complex and can vary in severity in each case. The most common symptoms are skin disease and susceptibility to bacterial infections. Infections can manifest anywhere in the body, such as the lungs, skin, central nervous system, liver, and gastrointestinal tract.
Treatment requires immunoglobulin replacement in order to boost antibodies, along with prophylactic antibiotics in order to prevent future infection. NEMO Deficiency Syndrome primarily occurs in males. The condition can be life-limiting, depending on the severity.
Credits: Immune Deficiency Foundation