The detail information of Severe combined immunodeficiency disease, X-linked
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: X-linked

Considered a defect: yes

Year key mutation first reported: 1994

Species-specific name: -

Species-specific symbol: XSCID

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB22 Basset Hound up to 38.1 cm 18.1-29.5 kg France
CB63 Cardigan Welsh Corgi 26.7-31.8 cm 13.6-17.2 kg (male), 11.3-15.4 kg (female) Wales
Associated Gene
There are no associated genes.
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
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 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 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 .
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 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.: :
Domestic animal models of severe combined immunodeficiency: canine X-linked severe combined immunodeficiency and severe combined immunodeficiency in horses. Immunodefic Rev 3:277-303, 1992.
Pubmed reference: 1449787 .
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 .