Disease Ontology ID: DDTO:0000547
Abbreviated Name: SCID
Disease Description: SCID is the most severe of the inherited immunodeficiency disorders. As the name implies, there is defective development of all components of the immune system. Pups are affected at a very young age, and are susceptible to a variety of infections.
Inherit Mode: This is an X-linked recessive trait. This means only males are clinically affected. However females can carry the trait and there is a 50% chance they will pass it to their male offspring.
Disease Symptom: Pups are usually affected by 3 weeks of age with problems like diarrhea, skin and ear infections, and respiratory infections - all of which respond poorly or not at all to antibiotics. These pups have stunted growth and most will die by 3 or 4 months, of severe bacterial or viral infections (commonly distemper). Male siblings of affected pups may have died of "fading puppy syndrome" or other vague conditions.
Disease Cause: -
Disease Diagnose: This disorder is uncommon. Your veterinarian may begin to suspect an immune defiency when your pup has recurring illnesses that are very difficult to treat. Laboratory tests will help with the diagnosis.
Treat Method: In affected people, the only successful treatment for this disorder is a bone marrow transplant which at present is not technically practical in dogs. Secondary infections are treated as required, but there is generally a poor response.
Breeder Advice: The mother of an affected dog is a carrier of the disorder and should not be used for breeding. Female siblings, although clinically normal, have a 50% chance of being a carrier and should also not be used in breeding programmes.
Disease Description Source: Link
| Disease Name | Other Name | Mode of inheritance | Link ID | Possible OMIM ID | Gene |
|---|---|---|---|---|---|
| Severe combined immunodeficiency disease, X-linked | - | X-linked | - | ||
| Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive | - | Autosomal Recessive | - | ||
| Severe combined immunodeficiency disease, autosomal | Combined immunodeficiency disease | Autosomal Recessive | - |
| iDog Breed Number | Breed Name | Personality | Height | Weight | Breed Source |
|---|---|---|---|---|---|
| CB22 | Basset Hound | Patient and low-key; a bit stubborn but always charming | up to 38.1 cm | 18.1-29.5 kg | France |
| CB63 | Cardigan Welsh Corgi | Loyal, affectionate, and smart; even-tempered, never shy | 26.7-31.8 cm | 13.6-17.2 kg (male), 11.3-15.4 kg (female) | Wales |
| CB23 | Bavarian Mountain Scent Hound | Loyal, Versatile, Reserved with Strangers | 17-20.5 inches | 37-66 pound | |
| CB64 | Carolina Dog | Loyal, Independent, Reserved with Strangers | 17.75-19.5 inches | 30-55 pounds | United States |
| 2020 |
Switonski,M.: :
Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies. J Appl Genet :, 2020. Pubmed reference: 32189222 . DOI: 10.1007/s13353-020-00554-8 . |
| 2011 |
Verfuurden,B.,Wempe,F.,Reinink,P.,vanKooten,PJ.,Martens,E.,Gerritsen,R.,Vos,JH.,Rutten,VP.,Leegwater,PA.: :
Severe combined immunodeficiency in Frisian Water Dogs caused by a RAG1 mutation. Genes Immun 12:310-3, 2011. Pubmed reference: 21293384 . DOI: 10.1038/gene.2011.6 . |
| 2011 |
Kennedy,DR.,Hartnett,BJ.,Kennedy,JS.,Vernau,W.,Moore,PF.,O'Malley,T.,Burkly,LC.,Henthorn,PS.,Felsburg,PJ.: :
Ex vivo γ-retroviral gene therapy of dogs with X-linked severe combined immunodeficiency and the development of a thymic T cell lymphoma. Vet Immunol Immunopathol 142:36-48, 2011. Pubmed reference: 21536334 . DOI: 10.1016/j.vetimm.2011.04.003 . |
| 2009 |
Meek,K.,Jutkowitz,A.,Allen,L.,Glover,J.,Convery,E.,Massa,A.,Mullaney,T.,Stanley,B.,Rosenstein,D.,Bailey,SM.,Johnson,C.,Georges,G.: :
SCID dogs: similar transplant potential but distinct intra-uterine growth defects and premature replicative senescence compared with SCID mice. J Immunol 183:2529-36, 2009. Pubmed reference: 19635917 . DOI: 10.4049/jimmunol.0801406 . |
| 2009 |
Kennedy,DR.,McLellan,K.,Moore,PF.,Henthorn,PS.,Felsburg,PJ.: :
Effect of ex vivo culture of CD34+ bone marrow cells on immune reconstitution of XSCID dogs following allogeneic bone marrow transplantation. Biol Blood Marrow Transplant 15:662-70, 2009. Pubmed reference: 19450750 . DOI: 10.1016/j.bbmt.2009.03.014 . |
| 2007 |
Suter,SE.,Gouthro,TA.,O'Malley,T.,Hartnett,BJ.,McSweeney,PA.,Moore,PF.,Felsburg,PJ.,Haskins,ME.,Henthorn,PS.: :
Marking of peripheral T-lymphocytes by retroviral transduction and transplantation of CD34+ cells in a canine X-linked severe combined immunodeficiency model. Vet Immunol Immunopathol 117:183-96, 2007. Pubmed reference: 17442404 . DOI: 10.1016/j.vetimm.2007.03.004 . |
| 2007 |
Vernau,W.,Hartnett,BJ.,Kennedy,DR.,Moore,PF.,Henthorn,PS.,Weinberg,KI.,Felsburg,PJ.: :
T cell repertoire development in XSCID dogs following nonconditioned allogeneic bone marrow transplantation. Biol Blood Marrow Transplant 13:1005-15, 2007. Pubmed reference: 17697962 . DOI: 10.1016/j.bbmt.2007.05.013 . |
| 2006 |
Goldschmidt,MH.,Kennedy,JS.,Kennedy,DR.,Yuan,H.,Holt,DE.,Casal,ML.,Traas,AM.,Mauldin,EA.,Moore,PF.,Henthorn,PS.,Hartnett,BJ.,Weinberg,KI.,Schlegel,R.,Felsburg,PJ.: :
Severe papillomavirus infection progressing to metastatic squamous cell carcinoma in bone marrow-transplanted X-linked SCID dogs. J Virol 80:6621-8, 2006. Pubmed reference: 16775349 . DOI: 10.1128/JVI.02571-05 . |
| 2006 |
Ting-DeRavin,SS.,Kennedy,DR.,Naumann,N.,Kennedy,JS.,Choi,U.,Hartnett,BJ.,Linton,GF.,Whiting-Theobald,NL.,Moore,PF.,Vernau,W.,Malech,HL.,Felsburg,PJ.: :
Correction of canine X-linked severe combined immunodeficiency by in vivo retroviral gene therapy. Blood 107:3091-7, 2006. Pubmed reference: 16384923 . DOI: 10.1182/blood-2005-10-4057 . |
| 2004 |
Perryman,L.E.: :
Molecular pathology of severe combined immunodeficiency in mice, horses, and dogs. Vet Pathol 41:95-100, 2004. Pubmed reference: 15017021 . DOI: 10.1354/vp.41-2-95 . |
| 2002 |
Bell,T.G.,Butler,K.L.,Sill,H.B.,Stickle,J.E.,Ramos-Vara,J.A.,Dark,M.J.: :
Autosomal recessive severe combined immunodeficiency of Jack Russell Terriers Journal of Veterinary Diagnostic Investigation 14:194-204, 2002. Pubmed reference: 12033674 . |
| 2002 |
Ding,Q.,Bramble,L.,Yuzbasiyan-Gurkan,V.,Bell,T.,Meek,K.: :
DNA-PKcs mutations in dogs and horses: allele frequency and association with neoplasia Gene 283:263-269, 2002. Pubmed reference: 11867233 . |
| 2001 |
Meek,K.,Kienker,L.,Dallas,C.,Wang,W.,Dark,MJ.,Venta,PJ.,Huie,ML.,Hirschhorn,R.,Bell,T.: :
SCID in Jack Russell terriers: a new animal model of DNA-PKcs deficiency. J Immunol 167:2142-50, 2001. Pubmed reference: 11489998 . |
| 2000 |
Hartnett,B.J.,Somberg,R.L.,Krakowka,S.,Ochs,H.D.,HogenEsch,H.,Moore,P.F.,Weinberg,K.I.,Felsburg,P.J.: :
B-cell function in canine X-linked severe combined immunodeficiency Veterinary Immunology & Immunopathology 75:121-134, 2000. |
| 1999 |
Ackerman, L. :
The Genetic Connection: A Guide to Health Problems in Purebred Dogs AAHA Press, Lakewood, Colorado. p. 100 |
| 1999 |
Felsburg,P.J.,Hartnett,B.J.,Henthorn,P.S.,Moore,P.F.,Krakowka,S.,Ochs,H.D.: :
Canine X-linked severe combined immunodeficiency Veterinary Immunology & Immunopathology 69:127-135, 1999. |
| 1999 |
Hartnett,B.J.,Henthorn,P.S.,Moore,P.F.,Weinberg,K.I.,Ochs,H.D.,Felsburg,P.J.: :
Bone marrow transplantation for canine X-linked severe combined immunodeficiency Veterinary Immunology & Immunopathology 69:137-144, 1999. |
| 1998 |
Felsburg,P.J.,Somberg,R.L.,Hartnett,B.J.,Henthorn,P.S.,Carding,S.R.: :
Canine X-linked severe combined immunodeficiency Immunologic Research 17:63-73, 1998. Pubmed reference: 9479568 . DOI: 10.1007/BF02786431 . |
| 1997 |
Felsburg,P.J.,Somberg,R.L.,Hartnett,B.J.,Suter,S.F.,Henthorn,P.S.,Moore,P.F.,Weinberg,K.I.,Ochs,H.D.: :
Full immunologic reconstitution following nonconditioned bone marrow transplantation for canine X-linked severe combined immunodeficiency Blood 90:3214-3221, 1997. Pubmed reference: 9376605 . |
| 1997 |
Pullen,R.P.,Somberg,R.L.,Felsburg,P.J.,Henthorn,P.S.: :
X-linked severe combined immunodeficiency in a family of cardigan welsh corgis Journal of the American Animal Hospital Association 33:494-499, 1997. Pubmed reference: 9358416 . |
| 1996 |
Somberg,R.L.,Tipold,A.,Hartnett,B.J.,Moore,P.F.,Henthorn,P.S.,Felsburg,P.J.: :
Postnatal development of T cells in dogs with X-linked severe combined immunodeficiency Journal of Immunology 156:1431-1435, 1996. |
| 1995 |
Somberg,R.L.,Pullen,R.P.,Casal,M.L.,Patterson,D.F.,Felsburg,P.J.,Henthorn,P.S.: :
A single nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency disease. Vet Immunol Immunopathol 47:203-13, 1995. Pubmed reference: 8571541 . |
| 1994 |
Deschenes,S.M.,Puck,J.M.,Dutra,A.S.,Somberg,R.L.,Felsburg,P.J.,Henthorn,P.S.: :
Comparative mapping of canine and human proximal Xq and genetic analysis of canine X-linked severe combined immunodeficiency Genomics 23:62-68, 1994. Pubmed reference: 7829103 . DOI: 10.1006/geno.1994.1459 . |
| 1994 |
Henthorn,P.S.,Somberg,R.L.,Fimiani,V.M.,Puck,J.M.,Patterson,D.F.,Felsburg,P.J.: :
IL-2R gamma gene microdeletion demonstrates that canine X- linked severe combined immunodeficiency is a homologue of the human disease Genomics 23:69-74, 1994. Pubmed reference: 7829104 . DOI: 10.1006/geno.1994.1460 . |
| 1994 |
Somberg,R.L.,Robinson,J.P.,Felsburg,P.J.: :
T lymphocyte development and function in dogs with X-linked severe combined immunodeficiency Journal of Immunology 153:4006-4015, 1994. |
| 1993 |
Snyder,P.W.,Kazacos,E.A.,Felsburg,P.J.: :
Histologic Characterization of the Thymus in Canine X-Linked Severe Combined Immunodeficiency Clinical Immunology and Immunopathology 67:55-67, 1993. Pubmed reference: 8443985 . |
| 1992 |
Felsburg,P.J.,Somberg,R.L.,Perryman,L.E.: :
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| 1992 |
Felsburg, P.J. :
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| 1989 |
Jezyk,PF.,Felsburg,PJ.,Haskins,ME.,Patterson,DF.: :
X-linked severe combined immunodeficiency in the dog. Clin Immunol Immunopathol 52:173-89, 1989. Pubmed reference: 2736807 . |