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.

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.

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.

SCID, Athabascan type, occurs in 1-9 in 1,000,000 newborns, but can be much higher in the descendant of Athabascan-speaking Native Americans (eg, Apache, Navajo).

Genetic Home Reference: SCID, Athabascan type (http://ghr.nlm.nih.gov/)
Orphanet: SCID due to DCLRE1C deficiency (http://www.orpha.net/consor/cgi-bin/index.php)

OMIM [SCID, Athabascan type: 602450] (http://www.ncbi.nlm.nih.gov/omim)
Right Diagnosis: SCID, Athabascan type (http://www.rightdiagnosis.com/)

• Full gene sequencing