原发性免疫缺陷病诊断标准

2006-03-09BritishJournalofHaematology9340/200092R725.9A1003-515X200609-0573-04Pan-AmericanGroupforImmunodeficiencyPAGIDEuropeanSocietyforImmunodeficienciesES-ID19993definitiveprobablepossible98%20mRNAmRNAXXmRNA85%2050%Xcommonvariableimmunodefi-ciencyCVID1.1IgGA2s①2②③12IgMGA2s①2②③12.2～4101/2IgMTBB25%IgA1.14IgA0.07g/LIgGIgM1IgG24IgA2sIgGM1IgG2.IgAIgACVIDseverecombinedimmunodefi-ciencySCID37521920065JApplClinPediatrVol.21No.9May20061.12TCD3+T20%3×109/L1①γγc②JAK3③RAG1RAG2④IL-7Rα⑤ADA2%222CD3+T20%3×109/L10%2.SCID2～7BCG123.1HIV23DiGeorge4ZAP705CD367MHCⅡ8PNPDiGeorge1.1CD3+T0.5×109/L32①②3③22q11.22CD3+T1.5×109/L22q11.23CD3+T1.5×109/L1①②3③2.Di-George22q11.2TMHCⅡ1.1BHLA-DRDQ5%CIITARFX-BRFX-5RFX-AP2BHLA-DRDQ5%1①②TB③3BHLA-DRDQ5%BT1①②T③CD4+④2.MHCⅡSCID64MHCⅡMHCⅡ5%MHCⅡleukocyteadhesiondefectsLAD1.1CD185%1①β2②β2mRNA2CD185%①②WBC25×109/L③3WBC25×109/L1①②③2.LADCD18CD18CD183.1CD18CD15a234.12SLeXLADIIchronicgranulomatousdiseaseCGD1.1NBT5%1①gp91p22p47p67phox②NorthernblotmRNA③NBT2NBT5%1①②③2.XCGD60%～70%XCGD1X3.1LAD23IgEXX-linkedseverecom-binedimmunodeficiencyXSCID1.1TCD3+T10%CD16/56+NK47521920065JApplClinPediatrVol.21No.9May20062%CD19+B75%1①γγc②Northernblotγc③γc④2CD3+T10%CD16/56+NK2%CD19+B75%①1②IgGA2s③3CD19+B40%1①T②2.XSCID467IgMIgGAT3.1JAK32IL-7Rα3HIVXX-linkedagammaglobu-linemiaXLA1.1CD19+B2%1①Btk②NorthernblotBtkmRNA③Btk④CD19+B2%2CD19+B2%①5②IgGMA2s③④13CD19+B2%11①5②IgGMA2s③2.2IgG2g/LIgMIgA0.2g/L20%10%～15%53.11µ2λ53IgαXIgMX-linkedhyperIgMXHIM1.1IgG2s1①CD40L②XHIM2IgG2s①T②BIgG③151CD40CD40LCD4+TCD40L3IgG2sTB1①IgM2s②1③④⑤2.150%IgG2g/LIgM23103.XHIM1TTCD69CD252HIV34MHCⅡ5CD4+T61Table1DifferentialDiagnosisofHypogammaglobulinemiaSCIDIgMⅡXXSCID18q-22821HIVEBBataxiatelangiectasiaAT1.1ATM243①②IgA2s③2s④357521920065JApplClinPediatrVol.21No.9May200641①②IgA2s③2s④2.AT14～810%～15%20AT3.NijmegenWASWiskott-AldrichsyndromeWAS1.170×109/L1①WASP②NorthernblotWASPmRNA④WASP④270×109/L1①②③④⑤370×109/L1①②③④⑤2.WASEBIgEAIgMEB50～100×109/LXX-linkedlympho-proliferativesyndromeXLP1.1SH2D1A/SAP/DSHP/EB2EB/EB3EB/2.EB60%30%IgGNK30%EB5%50%572Glu+WBC+/HPRBC+/HPVitK110hoxalatenephropathyON11.8%2ONPH11.12.3.3PHPH24ONPH1ONON1.J.1998143193-195.2.120J.2000387448.3.J.2001195267-268.67521920065JApplClinPediatrVol.21No.9May2006