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 4 names in this directory beginning with the letter G.
Glycogen Storage Disease Type Ib
Glycogen Storage Disease Type Ib is a disorder that occurs due to a defect of the enzyme glucose-6 phosphate transporter 1 and an accumulation of glycogen in the liver. This condition results in a large liver and low blood sugar. It also results in neutropenia, which is a disorder defined by low numbers of granulocytes. Neutropenia can lead to infections of all kinds, including for the skin, mucus membranes, bones, lymphnodes, liver, spleen, and blood stream.
Credits: Immune Deficiency Foundation
Goodpasture Syndrome
Goodpasture syndrome is a rare autoimmune disorder characterized by inflammation of the filtering structures (glomeruli) of the kidneys (glomerulonephritis) and excessive bleeding into the lungs (pulmonary hemorrhaging). Autoimmune syndromes occur when the body's natural defenses (antibodies) against invading or "foreign" organisms begin to attack the body's own tissue, often for unknown reasons. Symptoms of Goodpasture syndrome include recurrent episodes of coughing up of blood (hemoptysis), difficulty breathing (dyspnea), fatigue, chest pain, and/or abnormally low levels of circulating red blood cells (anemia). Credit: NORD.
Griscelli Syndrome
Griscelli syndrome (GS) is a rare autosomal recessive disorder that results in hypopigmented (unusually light) skin and silvery hair. There are three forms of Griscelli Syndrome, but only GS type 2 is considered a primary immunodeficiency. Individuals with GS type 2 are susceptible to recurrent infections. They also develop the immune condition hemophagocytic lymphohistiocytosis (HLH), which can damage organs and tissues, possibly leading to life-threatening complications if ignored. A bone marrow transplant is required for survival.
Griscelli Syndrome is a rare condition and the estimated frequency is unknown. Of the three types, GS type 2 is the most common.
Credits: Immune Deficiency Foundation, Genetics Home Reference
Griscelli’s Syndrome, (GS)
Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. Griscelli syndrome type 1 involves severe problems with brain function in addition to the distinctive skin and hair coloring. Affected individuals typically have delayed development, intellectual disability, seizures, weak muscle tone (hypotonia), and eye and vision abnormalities. Another condition called Elejalde disease has many of the same signs and symptoms, and some researchers have proposed that Griscelli syndrome type 1 and Elejalde disease are actually the same disorder.
People with Griscelli syndrome type 2 have immune system abnormalities in addition to having hypopigmented skin and hair. Affected individuals are prone to recurrent infections. They also develop an immune condition called hemophagocytic lymphohistiocytosis (HLH), in which the immune system produces too many activated immune cells called T-lymphocytes and macrophages (histiocytes). Overactivity of these cells can damage organs and tissues throughout the body, causing life-threatening complications if the condition is untreated. People with Griscelli syndrome type 2 do not have the neurological abnormalities of type 1. Credit: Genetic Home Reference