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.

All | # A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
There are 5 names in this directory beginning with the letter D.
Deficiencies of CD3 Chains
The condition Severe Combined Immunodeficiency can occur for many reasons; one of these reasons is the deficiency of CD3 Chains. Mutations in the genes that encode 3 individual protein on the T-cell receptor complex, CD3. Deficiencies of CD3 Chain are autosomal recessive traits. SCID is a potentially fatal condition that results in high susceptibility to severe, recurrent infection during infancy. Early intervention is ideal for individuals with SCID; placing SCID within newborn screening programs can aid with early diagnosis and treatment. Live virus vaccines should not be given to infants with SCID. Undergoing a bone marrow transplant or gene-therapy could cure the condition. Credits: Immune Deficiency Foundation

Deficiency of CD45
Deficiency of CD45 is a catalyst for the condition SCID (Severe Combined Immunodeficiency). SCID occurs because of mutations in the genetic coding of the protein CD45, which is essential for T-cell function. This deficiency is an autosomal recessive trait. SCID is a potentially fatal condition that results in high susceptibility to severe, recurrent infection during infancy. Early intervention is ideal for individuals with SCID; placing SCID within newborn screening programs can aid with early diagnosis and treatment. Live virus vaccines should not be given to infants with SCID. Undergoing a bone marrow transplant or gene-therapy could cure the condition. Credits: Immune Deficiency Foundation

Deficiency of Janus Kinase 3
The condition Severe Combined Immunodeficiency can occur for many reasons; one of these reasons is the deficiency of Janus Kinase 3. SCID occurs when there is a mutation in a gene that encodes the enzyme Janus kinase 3 (Jak3). It accounts for less than 10% of SCID cases. It is an autosomal recessive trait, so it can affect males and females. SCID is a potentially fatal condition that results in high susceptibility to severe, recurrent infection during infancy. Early intervention is ideal for individuals with SCID; placing SCID within newborn screening programs can aid with early diagnosis and treatment. Live virus vaccines should not be given to infants with SCID. Undergoing a bone marrow transplant or gene-therapy could cure the condition. Credits: Immune Deficiency Foundation

Deficiency of the Alpha Chain of the IL-7 Receptor
Deficiency of the Alpha Chain of the IL-7 Receptor is another form of Severe Combined Immunodeficiency. This results from the gene mutation of the alpha chain of IL-7 receptor. It is the third most common cause of SCID and accounts for 11% of cases. It is inherited as an autosomal recessive trait, and both boys and girls can suffer from it. SCID is a potentially fatal condition that results in high susceptibility to severe, recurrent infection during infancy. Early intervention is ideal for individuals with SCID; placing SCID within newborn screening programs can aid with early diagnosis and treatment. Live virus vaccines should not be given to infants with SCID. Undergoing a bone marrow transplant or gene-therapy could cure the condition. Credits: Immune Deficiency Foundation

DiGeorge Syndrome
DiGeorge Syndrome, otherwise known as 22q11.2 deletion syndrome, varies wildly between cases and can have a multitude of symptoms. Common symptoms are heart abnormalities, cleft palate, and distinctive facial features. Many individuals with DiGeorge Syndrome can have breathing problems, hearing loss, gastrointestinal issues, thrombocytopenia (decreased blood platelets), and developmental delays. A major symptom of DiGeorge Syndrome is the deficient immune system. Low T-lymphocyte production results in frequent infections. The syndrome occurs in an estimated 1 in 4,000 people. However, this estimate is assumed to be incorrect and the condition is believed to be underdiagnosed. Credits: Immune Deficiency Foundation, Genetics Home Reference
  • Language

  • Cornerstone Club

    Grifols-Google