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Severe Combined Immunodeficiency, Athabascan type
What is Severe Combined Immunodeficiency, Athabascan type?
Severe combined immunodeficiency (SCID) is the most serious primary or congenital human immunodeficiency disorder. It is a group of congenital disorders in which the immune system does not work properly. Children with SCID are vulnerable to recurrent severe infections, retarded growth, and early death. SCID, Athabascan type, is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to grow at the expected rates of height and weight, ulcerating sores, low white blood cell counts, small lymph nodes, and cell sensitivity to ionizing radiation. SCID, Athabascan type, is caused by pathogenic variants in DCLRE1C gene.
How is Severe Combined Immunodeficiency, Athabascan type inherited?
SCID, Athabascan type is inherited in an autosomal recessive manner. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have the genetic disease. Both parents must be carriers of a pathogenic variant in the gene in order to be at risk to have an affected child. The child must inherit a pathogenic variant from each carrier parent in order to be affected. There is a 1 in 4 chance that a baby will inherit two mutated copies of the gene and be affected when both parents are carriers.
What does it mean to be a carrier?
There are generally no signs or symptoms associated with being a carrier for SCID, Athabascan type. However, the risk to have a child affected with these disorders is increased. Testing of reproductive partners is recommended for carriers of SCID, Athabascan type.
How common is Severe Combined Immunodeficiency, Athabascan type?
What is analysed?
|Ethnicity||Detection Rate||Carrier Frequency|
|General Population||41%||1 in 500|