Types of PI

Primary Immunodeficiency (PI) is an umbrella term for over 300 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.

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There are 2 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

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. However, GS type 2 is the most common of the three types. Credits: Immune Deficiency Foundation, Genetics Home Reference
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