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 5 names in this directory beginning with the letter S.
Schimke Syndrome
Schimke Syndrome, also known as Schimke immuno-osseous dysplasia, is a very rare form of primary immunodeficiency. Signs of the syndrome are kidney disease, curvature of the lower back (lordosis), and hyperpigmentation. Individuals with Schimke Syndrome also have a shortage of T-cells, meaning their immune system is uanble to fight off infections. Another symptom is short stature; the typical adult height for someone with Schimke Syndrome ranges from 3 to 5 feet tall.
The condition can be severe or mild, depending on the case and the symptoms. Individuals may not develop symptoms until late childhood. Schimke Syndrome is very rare and is estimated to only occur to one in 1 million to 3 million people in North America.
Credits: Immune Deficiency Foundation, Genetics Home Reference
Selective IgA Deficiency
Individuals with Selective IgA Deficiency immunoglobulin A, but have no other immunoglobulin deficiencies. Many of the individuals affected by Selective IgA Deficiency will show no signs of illness, while others can have multiple or serious symptoms. Individuals with Selective IgA Deficiency can be susceptible to infections, particularly of the ear, sinuses, and lungs (pneumonia, bronchitis). They can also have gastrointestinal infections and chronic diarrhea. A more serious symptom is the heightened probability of acquiring an autoimmune disease, such as rheumatoid arthritis, systemic lupus erythematosus, immune thrombocytopenic purpura, etc.
Selective IgA Deficiency is one of the most common forms of PI. It has been noted to be relatively common in Caucasians; studies have indicated that as many as 1 in every 500 Caucasian people have the condition.
Credits: Immune Deficiency Foundation
Selective IgM Deficiency
Selective IgM Deficiency is an antibody deficiency disorder. Individuals with Selective IgM Deficiency have low levels of the antibody IgM. Individuals with the condition have recurring (often severe) infections. The condition appears similar to Common Variable Immunodeficiency. At times, patients can be asymptomatic.
Credits: Immune Deficiency Foundation
Specific Antibody Deficiency
Specific Antibody Deficiency (SAD) is sometimes called Partial Antibody Deficiency or Impaired Polysaccharide Responsiveness. Among the five classes of immunoglobulins: IgG, IgA, IgM, IgD, and IgE, IgG has the predominant role in protection against infection. Some individuals with Specific Antibody Deficiency have have normal levels of immunoglobulins and all forms of IgG, but do not produce sufficient specific IgG antibodies that protect from viruses and bacteria. Therefore, individuals with SAD experience recurrent otitis (ear infection), sinusitis, bronchitis, and pneumonia. The infections will not be as severe as the infections for individuals with X-linked Agammaglobulinemia or Common Variable Immune Deficiency (CVID).
Credits: Immune Deficiency Foundation
Specific Granule Deficiency
Specific granule deficiency is extremely rare. The condition results in decreased granules within neutrophils. Neutrophils aid in fighting infection by going to the infection site and ingesting the organism, thereby killing the organism. Patients with Specific Granule Deficiency are at risk for bacterial and fungal infections.
Credits: Immune Deficiency Foundation