immunodeficiency

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1、Immunology2008Lecture25Immunodeficiency10NovemberTODAYImmunodeficiency,Chap.21ImmunodeficiencyImmunodeficiencies●Congenital/Primarygeneticordevelopmentaldefect●Acquired/SecondaryresultofdiseaseortherapyEfferent/CongenitalChronicGranulomatousDiseasedefectintheabilityofMFandPMN

2、stokillphagocytosedorganismschronicbacterialinfectionsseveralgeneticdefectsinNADPoxidasesystemantibiotics(&B.M.transplant?)Efferent/CongenitalComplementDeficienciesabsenceofoneoranothercomplementcomponentC1,4:autoimmunediseases,someinfectionsC5-9:NeisseriainfectionsProper

3、din:manypyogenicinfectionsmaintainedwithantibioticsQuestion:Wouldbonemarrowtransplanthelp?Central/CongenitalSevereCombinedImmunodeficiencyDiGeorgeSyndrome,ThymicAplasiaBruton’sAgammaglobulinemiaCentral/CongenitalBruton’sAgammaglobulinemiabacterialinfectionsstarting~4-8months

4、absenceoffunctionalB-cellsX-linkedrecessive,geneforBTK(Bruton’sTyrosineKinase)IntravenousIgtherapyCentral/CongenitalDiGeorge’sSyndrome,ThymicHypoplasiapostnatalhypocalcemictetany,viralandfungalinfectionswithinfirstfewmonthsabsenceofthymusorfunctionalT-cellsdevelopmentdef

5、ectof3rd&4thpharyngealpouches,defectivethymus¶thyroid(partofheterogenousfamilyofCardiovelofacialSyndrome)sporadicdeletionsonchromosome22supportivetherapy,orthymicepithelialtransplantectopictransplant?Central/CongenitalSevereCombinedImmunodeficiencyoverwhelminginfections

6、infirstyearoflifeabsenceoffunctionalT-orB-cellsseveralgeneticdefects,includingADA(adenosinedeaminase),PNP(purinenucleotidephosphorylase),IL-2Rg(IL-2receptorgamma,X-linked)curedwithsuccessfulB.M.transplantDavidthe“BubbleBoy”,bornwithSCID●Bornin1971;olderbrotherhaddiedofSCID(

7、Pneumocystisinfection)oneyearearlier.●Potentialproblemwasexpected;50%male,50%diseased●“Germ-free”birth,reverseisolationchamber.(Nottrulygerm-free,35speciesofmicroorganismidentifiedatage6).●Phagocyticfunction,ADA&com-plementclosetonormal.●IgMlow,noIgG,tracesofIgA,someIgD(determ

8、inedwithRID)●NoresponsetoKLH,eitherbyAborskintest(CMI).●NoAbr