普通型變異缺陷綜合征

CVIDcommonvariableimmunodeficiencyCASESTUDY

A29-year-oldmanhadahistoryofcough,sputumandhemoptysisfor22years.Thediseaseoutbreaks3to5timeswithadurationofonemonth..Hehadattackofviralmyocarditis,pleuritis,sinusitisandbacterialpneumonia.Whenhewasadmittedintohospital,hewasinfever(T=39-41℃),cough,blood-tingedsputumwithnightsweatfor17days.CASESTUDYT=38.7℃

HeartRate=96times/minBloodPressure=136/75mmHgQuantitationofserumimmunoglobulinsshowed:IgG<1.89g/L(NR:8-15g/L)IgM<0.225g/L(NR:0.83~3.0g/L)IgA<0.183g/L(NR:0.5~2.5g/L)Bcellcountisnormal.DiagnosisLowerrespiratorytractinfectionCommonvariableimmunodeficiency(CVID)*QUESTIONS*WhatisCVID?Whydoesthepatientsufferfromfrequentinfections?Howdoseittreatedandwhatabouttheprognosis?CVID

Commonvariableimmunodeficiencyisagroupofunclarifiedimmunediseaseswithlowbloodlevelofgammaimmunoglobulinasitscharacter.Mechanism1.Geneticfactor2.Bcellabnormality3.Tcellabnormality4.AutoimmunityYES!!PatientswithCVIDhassomethingwrongwithIgproduction↓ThepatientislackofimmunoglobulinLet’scometothefunctionofIg!

ThefunctionofAb1)

Neutralization2)

Activatecomplementsystem3)Opsonization–macrophage4)

ADCC—NKADCCIgG1.Highestconcentrationinserum(75%oftotalIg)2.FunctionsofIgG:againstbacteriaandvirus,neutralizetoxinsomebelongtotheauto-antibodies:eg.longactivethyroidstimulator(LATS)

combinewiththeFcreceptor(FcγR)Now,weknowtheantibodyplaysanimportantroleinanti-infectionsofourbodies.-----ohoh!Ifwearelackofantibody,ourbodieswillbesusceptivetoinfections!!SuchasinCVID!!Treatment

Immunoglobulinandfrequentuseofantibioticareusuallyrequired.Additionalimmunoglobulinshouldbegivenduringanacuteillness.Thegamma-immunoglobulinisthefirstchoice(0.35-0.5g/Kgeverymonth)tokeepthelevelofserumIgGat3-4g/L.Ifplasmaisused,thedosageis100mg/Kgeverymonth.PrognosisEventhoughthepatientsmaylivealonglife(70)withpropertreatmentmentionedabove,theprognosiscannotbeconsideredsatisfiedenough.Becausemanypatientsmayinducedintochronicinfections,especiallythechronicrespiratoryinfections;partofthepatientscomplicatedwithautoimmunitydiseaseandcancer.ThereisstillalongjourneybeforewecuretheCVID!Let’sstart,NOW!!

THANKYOU!!1GeneticFactor

Eventhoughmostcasesarescattered,somecaseshavefamilyhistory,especiallyoccuralongwithselectiveIgA

abscentdisease.Fromthetruthabove,wecaninducethatbothdiseasesduetosomegenemutation.MHCⅢcomplementgenemutationisthemostsuspicious.

Bcellabnormality(1)AbnormalBcellproduction(2)DisorderofBcelldifferentiation(3)DisfuntionofBcell(4)InhibitoryfactorofBcellsTcellabnormality(1)DisfunctionofTh2cell(2)DisfunctionofTregcellNormalTh2helpBcellactivationTreg

cellTregcellisakindofCD4+TcellwithCD25expressedonitanditcanproduceakindofproteincalledfoxp3.Tregcellplaysanimportantroleinregulationofimmuneresponse.ItsuppressesBcellresponsebysecretingcytokinessuchasTGF-betaandIL-10.4Autoimmunity

Insomecases,serologicaltestshowedpositiveanti-Bcellantibodyoranti-Tcellantibody,thefindingin