Severe combined immunodeficiency (non-human) - Wikipedia

A close-up of white Severe combined immunodeficiency (SCID) mouse held by a human hand. SCID mice are routinely used as model organisms for research into the ... Severecombinedimmunodeficiency(non-human) FromWikipedia,thefreeencyclopedia Jumptonavigation Jumptosearch Theseverecombinedimmunodeficiency(SCID)isasevereimmunodeficiencygeneticdisorderthatischaracterizedbythecompleteinabilityoftheadaptiveimmunesystemtomount,coordinate,andsustainanappropriateimmuneresponse,usuallyduetoabsentoratypicalTandBlymphocytes.Inhumans,SCIDiscolloquiallyknownas"bubbleboy"disease,asvictimsmayrequirecompleteclinicalisolationtopreventlethalinfectionfromenvironmentalmicrobes. SeveralformsofSCIDoccurinanimalspecies.NotallformsofSCIDhavethesamecause;differentgenesandmodesofinheritancehavebeenimplicatedindifferentspecies. Contents 1Horses 2Dogs 3Mice 4Seealso 5References Horses[edit] EquineSCIDisanautosomalrecessivedisorderthataffectstheArabianhorse.Similartothe"bubbleboy"conditioninhumans,anaffectedfoalisbornwithnoimmunesystem,andthusgenerallydiesofanopportunisticinfection,usuallywithinthefirstfourtosixmonthsoflife.ThereisaDNAtestthatcandetecthealthyhorseswhoarecarriersofthegenecausingSCID,thustestingandcareful,plannedmatingscannoweliminatethepossibilityofanaffectedfoaleverbeingborn.[1][2][3] SCIDisoneofsixgeneticdiseasesknowntoaffecthorsesofArabianbloodlines,andtheonlyoneofthesixforwhichthereisaDNAtesttodetermineifagivenhorseisacarrieroftheallele.[4]Thereareothergeneticdiseasesthataffectotherhorsebreeds,[5]andhorsesofpart-ArabianbloodlinescanbecarriersofSCID. UnlikeSCIDinhumans,whichcanbetreated,forhorses,todate,theconditionremainsafataldisease.[6]Whenahorseisheterozygousforthegene,itisacarrier,butperfectlyhealthyandhasnosymptomsatall.Iftwocarriersarebredtogether,however,classicMendeliangeneticsindicatethatthereisa50%chanceofanygivenmatingproducingafoalthatisacarrierheterozygousforthegene,anda25%riskofproducingafoalaffectedbythedisease.Ifahorseisfoundtocarrythegene,thebreedercanchoosetogeldamaleorspayafemalehorsesothattheycannotreproduce,ortheycanchoosetobreedtheknowncarrieronlytohorsesthathavebeentestedandfoundtobe"clear"ofthegene.Ineithercase,carefulbreedingpracticescanavoideverproducinganSCID-affectedfoal. Dogs[edit] TherearetwoknowntypesofSCIDindogs,anXchromosome-linkedformthatisverysimilartoX-SCIDinhumans,[7]andanautosomalrecessiveformthatissimilartothediseaseinArabianhorsesandSCIDmice.[8] X-SCIDindogsisseeninBassetHoundsandCardiganWelshCorgis.BecauseitisanX-linkeddisease,femalesarecarriersonlyanddiseaseisseeninmalesexclusively.Itiscausedbyamutationinthegeneforthecytokinereceptorcommongammachain.[7]Recurringinfectionsareseenandaffectedanimalsusuallydonotlivebeyondthreetofourmonths.Characteristicsincludeapoorlydevelopedthymusgland,decreasedT-lymphocytesandIgG,absentIgA,andnormalquantitiesofIgM.[9]Acommoncauseofdeathiscaninedistemper,whichdevelopsfollowingvaccinationwithamodifiedlivedistempervirusvaccine.[10]DuetoitssimilaritytoX-SCIDinhumans,breedingcoloniesofaffecteddogshavebeencreatedinordertostudythediseaseandtesttreatments,particularlybonemarrowtransplantationandgenetherapy.[11] TheautosomalrecessiveformofSCIDhasbeenidentifiedinonelineofJackRussellTerriers.ItiscausedbyalossofDNAproteinkinase,whichleadstofaultyV(D)Jrecombination.V(D)Jrecombinationisnecessaryforrecognitionofadiverserangeofantigensfrombacteria,viruses,andparasites.ItischaracterizedbynonfunctionalTandB-lymphocytesandacompletelackofgammaglobulins.[10]Deathissecondarytoinfection.DifferencesbetweenthisdiseaseandtheformfoundinBassetsandCorgisincludeacompletelackofIgMandthepresenceofthediseaseinfemales. Mice[edit] Seealso:Humanizedmouse Aclose-upofwhiteSeverecombinedimmunodeficiency(SCID)mouseheldbyahumanhand. SCIDmiceareroutinelyusedasmodelorganismsforresearchintothebasicbiologyoftheimmunesystem,celltransplantationstrategies,andtheeffectsofdiseaseonmammaliansystems.Theyhavebeenextensivelyusedashostsfornormalandmalignanttissuetransplants.Inaddition,theyareusefulfortestingthesafetyofnewvaccinesortherapeuticagentsinimmunocompromisedindividuals. TheconditionisduetoararerecessivemutationonChromosome16responsiblefordeficientactivityofanenzymeinvolvedinDNArepair(Prkdcor"proteinkinase,DNAactivated,catalyticpolypeptide").BecauseV(D)Jrecombinationdoesnotoccur,thehumoralandcellularimmunesystemsfailtomature.Asaresult,SCIDmicehaveanimpairedabilitytomakeTorBlymphocytes,maynotactivatesomecomponentsofthecomplementsystem,andcannotefficientlyfightinfections,norrejecttumorsandtransplants. BycrossingSCIDmicewithmicecarryingmutationsinrelatedgenes,suchasinterleukin-2Rgamma,[12]moreefficientimmunocompromisedstrainscanbecreatedtofurtheraidresearch.ThedegreetowhichthevariouscomponentsoftheimmunesystemarecompromisedvariesaccordingtowhatothermutationsthemicecarryalongwiththeSCIDmutation. Seealso[edit] Severecombinedimmunodeficiency,foradetailedoverviewoftheconditioninhumansandanin-depthscientificexplanationofthedisease Foalimmunodeficiencysyndrome Animaltestingonrodents References[edit] ^"SCIDinArabianHorses" ^Parkinson,MaryJane."SCID:AnUpdate."fromArabianHorseWorld,March,1998 ^"TheNewDNATestforSevereCombinedImmunodeficiency(SCID)inArabianHorses" ^AHAEquineStress,ResearchandEducationCommittee."Caution:Knowledge."ModernArabianHorse,August/September2007,pp.100-105.Onlineversionat"Archivedcopy".Archivedfromtheoriginalon2007-12-25.Retrieved2007-12-10.{{citeweb}}:CS1maint:archivedcopyastitle(link) ^OtherbreedsknowntohavesomeindividualswithgeneticconditionsincludetheAmericanQuarterHorse,AmericanPaintHorse,AmericanSaddlebred,Appaloosa,Miniaturehorse,andBelgian. ^FOAL.org,anorganizationpromotingresearchintogeneticlethaldiseasesinhorse ^abHenthornPS,SombergRL,FimianiVM,PuckJM,PattersonDF,FelsburgPJ(1994)."IL-2RgammagenemicrodeletiondemonstratesthatcanineX-linkedseverecombinedimmunodeficiencyisahomologueofthehumandisease".Genomics.23(1):69–74.doi:10.1006/geno.1994.1460.PMID 7829104. ^BellTG,ButlerKL,SillHB,StickleJE,Ramos-VaraJA,DarkMJ(2002)."AutosomalrecessiveseverecombinedimmunodeficiencyofJackRussellterriers".J.Vet.Diagn.Invest.14(3):194–204.doi:10.1177/104063870201400302.PMID 12033674. ^PerrymanLE(2004)."Molecularpathologyofseverecombinedimmunodeficiencyinmice,horses,anddogs".Vet.Pathol.41(2):95–100.doi:10.1354/vp.41-2-95.PMID 15017021. ^abEttinger,StephenJ.;Feldman,EdwardC.(2005).TextbookofVeterinaryInternalMedicine(6th ed.).W.B.SaundersCompany.ISBN 1-4160-0110-7. ^Ting-DeRavinSS,KennedyDR,NaumannN,et al.(2006)."CorrectionofcanineX-linkedseverecombinedimmunodeficiencybyinvivoretroviralgenetherapy".Blood.107(8):3091–7.doi:10.1182/blood-2005-10-4057.PMC 1895747.PMID 16384923. ^ItoM,HiramatsuH,KobayashiK,et al.(November2002)."NOD/SCID/gamma(c)(null)mouse:anexcellentrecipientmousemodelforengraftmentofhumancells".Blood.100(9):3175–82.doi:10.1182/blood-2001-12-0207.PMID 12384415. 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