Here we have identified the first human RS-SCID patient to our knowledge with a DNA-PKcs missense mutation (元062R). Vet Immunol Immunopathol 65:1-9, 1998.Radiosensitive T –B – severe combined immunodeficiency (RS-SCID) is caused by defects in the nonhomologous end-joining (NHEJ) DNA repair pathway, which results in failure of functional V(D)J recombination. Equine Vet J 32:386-91, 2000.Īnalyses of TCRB rearrangements substantiate a profound deficit in recombination signal sequence joining in SCID foals: Implications for the role of DNA-dependent protein kinase in V(D)J recombination Journal of Immunology 164:1416-1424, 2000.Ĭlinical snapshot - Case presentation #7 - Combined immunodeficiency syndrome (CID) Compendium on Continuing Education for the Practicing Veterinarian 21:659-+, 1999.Įstimation of the prevalence of severe combined immunodeficiency disease in UK Arab horses as determined by a DNA-based test Veterinary Record 145:22-23, 1999.įrequency of the SCID gene among Arabian horses in the USA Animal Genetics 29:41-42, 1998.Įquine SCID: mechanistic analysis and comparison with murine SCID. Vet Clin North Am Equine Pract 16:105-16, vii, 2000.Īnaemia, diarrhoea and opportunistic infections in Fell ponies.
Severe-Combined-Immunodeficiency-Disease (SCID) in the Arabian horse: a review Tijdschrift voor Diergeneeskunde 125:577-581, 2000. Vet Pathol 41:95-100, 2004.ĭNA-PKcs mutations in dogs and horses: allele frequency and association with neoplasia Gene 283:263-269, 2002. Molecular pathology of severe combined immunodeficiency in mice, horses, and dogs.
Vet Clin North Am Equine Pract 24:299-310, vi, 2008.įrequency of the severe combined immunodeficiency disease gene among horses in Morocco. Severe combined immunodeficiency in a Caspian filly. The carrier prevalence of severe combined immunodeficiency, lavender foal syndrome and cerebellar abiotrophy in Arabian horses in South Africa. Molecular detection of severe combined immunodeficiency disorder in Arabian horses in Egypt. Genetic screening for cerebellar abiotrophy, severe combined immunodeficiency and lavender foal syndrome in Arabian horses in Poland. Investigation of cerebellar abiotrophy (CA), Lavender Foal Syndrome (LFS), and severe combined immunodeficiency (SCID) variants in a cohort of three MENA region horse breeds. Recent year to the earliest year), and alphabetically by first author within a Note: the references are listed in reverse chronological order (from the most The following details (from which the coordinate fields were populated) were provided by Meredith O’Connell, Tanya German, Isabella Pisani and Karalie Andrews, under the supervision of Professor Ernie Bailey. Severe combined immunodeficiency disease, autosomalĪ 5bp deletion giving rise to a frameshift in PRKDC These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table. Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
Click it again to sort in a descending order.
Readers can re-sort on any column by clicking on the column header. Protein kinase, DNA-activated, catalytic polypeptideīy default, variants are sorted chronologically by year of publication, to provide a historical perspective. (2018) reported a zero frequency of the c.9478_9482del variant in a sample of 103 Egyptian horses, including 33 randomly-selected Arab horses. 1976 ) before the gene (PRKDC) and variant responsible for the trait was found. Comparative functional candidate genes from human SCID (ADA, NP) were considered and rejected (McGuire et al. Further investigation of families indicated this was a recessive genetic disorder found among Arabian horses.
#Scid horses full#
This disorder was first described by McGuire and Poppie (1973), in two Arabian foals that were full siblings, each of which exhibited deficiency of B- and T-lymphocyte function. Severe Combined Immunodeficiency Disease (SCID) In other species: dog Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 600899 (gene)
0 kommentar(er)
