Severe Combined Immune-deficiency (X-Linked SCID)

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Related Terms: IL2RG, X-SCID, XSCID

Type: DNA

Sample Types: Cheek brushes/swabs or Fresh EDTA blood

This type of test request requires a pre approval. Please email PennGen@vet.upenn.edu to get pre approval before taking any samples. If you don't get a pre approval your request will be cancelled.

12–16 weeks of age

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Sample Processing

Cost: $75.00

Species and Breeds
Canine - Basset Hound
Canine - Cardigan Welsh Corgi
Canine - Pembroke Welsh Corgi

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Clinical signs become apparent between 12 and 16 weeks of age when maternal immunity wanes. Clinical signs include a general failure to thrive, lack of palpable peripheral lymph nodes, dermatitis, vomiting, diarrhea, coughing, and weight loss. Affected dogs develop diseases caused by bacteria and viruses that are typically non-pathogenic in healthy animals. Affected dogs die by 4–5 months of age unless treated by bone marrow transplantation, gene therapy, or by providing a germ-free environment (“boy in the bubble”).

4 months in the absence of treatment.

X-linked recessive

Absence of all lymph nodes and thymus aplasia. The other histological findings depend on the types of infections.

IL2RG and NM_001003201.1:c.30_33delCCTC (Basset Hound) IL2RG and NM_001003201.1:c.582_583insC (Cardigan Welsh Corgi)

Explanation of Results
Genotype Phenotype Interpretation
2-2 (Homozygous Disease Variant in Female) or 2 (Hemizygous Disease Variant in Male) Unhealthy (Affected) Homozygous Affected Females (2-2) are expected to develop signs consistent with Severe Combined Immune-deficiency (X-Linked SCID) and all of their offspring will inherit a disease variant allele. Hemizygous Affected Males (2, only one X chromosome) are expected to develop signs consistent with Severe Combined Immune-deficiency (X-Linked SCID) and only their female offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.
1-2 (Heterozygous Female) Healthy (Carrier) Heterozygous Carrier Females (1-2) are not expected to develop signs of Severe Combined Immune-deficiency (X-Linked SCID) but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.
1-1 (Homozygous Normal in Female) or 1 (Hemizygous Normal in Male) Healthy (Normal, Clear) Homozygous Normal Females (1-1) and Hemizygous Normal Males (1, only one X chromosome) are not expected to develop signs of Severe Combined Immune-deficiency (X-Linked SCID) and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

Somberg RL, Pullen RP, Casal ML, Patterson DF, Felsburg PJ, Henthorn PS. A single nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency disease. Vet Immunol Immunopathol. 1995 Aug;47(3-4):203-13. doi: 10.1016/0165-2427(94)05400-m. PMID: 8571541. Henthorn PS, Somberg RL, Fimiani VM, Puck JM, Patterson DF, Felsburg PJ. IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease. Genomics. 1994 Sep 1;23(1):69-74. doi: 10.1006/geno.1994.1460. PMID: 7829104.