150 International Union of Immunological Societies Primary Immunodeficiency Disease Classification. IgG. loss of function

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1 2008 Vol. 20No IgG 46 T T T loss of function 150 International Union of Immunological Societies Primary Immunodeficiency Disease Classification Committee T B B 2 Infectious diseases and primary immunodeficiencies Key words

2 MASP2 GCSFR C1q C8, IL23R CMCT GFI1 RAP1A RFX5 HAX1 FasL NCF2 PTPRC CD45 CFH LYST CIAS1 CD8A IGKC ZAP70 CXCR4 STAT1 ICOS CASP8 CASP10 NHEJ1 SMARCAL1 HIES C9 C7 C6 IL7R AP3BI IL12B C2 C4 IGAD1 TAP IFGR1 STX11 ACTB SBDS NCF1 NBS1 RMRP C5 ARTEMIS MBP1 PRF1 BLNK Fas RAG FUCT1 C1NH UNC93B1 CTSC MREI1A ATM CD3D CD3E CD3G RFXAP LIG4 CEBPE IKBA NP IGHD IGHM IGHG IGHA RAB 27A PSTP1 P1 RECQ L3v MHC2TA MEFV CD19 NOD2 CYBA WHN TNRRSF13B STAT3 EVER1, 2 MUNC13D ELA2 CFD TYK2 JAK3 IL12RB1 RFXANK C3 FPR1 CD40 ADA IFGR2 AIRE ITGB2 DGCR IGLL1 RAC2 BAFFR CYBB PFC WAS FOXP3 IL2RG BTK X1AP SH2D1A CD40L NEMO G6PD 1 Clr AICDA TNFRSF1A IRAK4 UNG MVK

3 2008 Vol. 20No T 17 32,300l CRP 27.1 mgdlesr 89 mmhrigg50 mgdliga10 mgdigm5 mgdl 5 4,900lCRP 8.8 mgdl6 25,300lCRP 10.5 mgdl 35,200lCRP 19.1 mgdl ,144 g 1 3 A X 10,700l CRP 31.6 mgdligg 52 mgdliga 1 mgdligm 8 mg dlt 95B B 12 X Xlinked agammaglobulinemiaxlaxla BTK 2,3 12 BTK XLA 3 BTK XLA 2 XLA XLA 3 XLA B XLA BTK ,172 g BCG 2 17

4 BTK BTK BTK BTK 12 BTK 4 XLA 3 SpO

5 2008 Vol. 20No N PICU 410 l 10.5 gdl l 4,830l CRP 0.6 mgdligg 100 mgdliga 23 mgdligm 21 mgdl CD3 2.1CD4 3.0 CD8 0.3CD56 1.3CD16 1.1CD CD empiric severe combined immunodeficiencyscid CD19CD20 B BSCID BSCID X SCID c c c c SCID SCID SCID SCID BCG BCG BCG SCID SCID 10 SCID SCID SCID T 5 X T T cell receptortcr DNA TCR excision circlestrec TREC PCR 4 TREC 43 N 18 ZiehlNielsen IFNIL12

6 IFNIL IFNR1IFNR2STAT 1IL12R1IL12p40 NEMO 6 NEMO BCG BCG IFNR1 7,8 IFNIL12 T B Toll Tolllike receptortlrtlr TLR 1 IL1R Toll IL1R TIR TLR pathogenassociated molecular patternspamps TLR TLR10 TLR111 TLR MyD88 TIR TLR IL1R associated kinaseirak1 IRAK 4 7 IRAKs TNF receptor associated factor 6TRAF6 IB kinaseikk IKK IB degradation NFB IL6 TNF MyD88 TLR3 TRIF MyD88 TLR

7 2008 Vol. 20No TLR 9,10 IRAK4 TLR3 UNB3 NEMO IB IgE 2 1 Tyk2 11 IgE 1 STAT XLA BTK TLR

8 XLA TLR78 13,14 XLA PID Japan http: pidj.rcai.riken. jpmedical.html Geha RS, et alprimary immunodeficiency diseasesan update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol , Futatani T, et aldeficient expression of Bruton s tyrosine kinase in monocytes from Xlinked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection. Blood , Kanegane H, et alclinical and mutational characterization of Xlinked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis. J Allergy Clin Immunol , Puck JMNeonatal screening for severe combined immunodeficiency. Curr Opin Allergy Clin Immunol , Rosenzweig SD, et aldefects in the interferon and interleukin12 pathways. Immunol Rev , FilipeSantos O, et alxlinked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40dependent IL12 production. J Exp Med , Sasaki Y, et algenetic basis of patients with bacilli CalmetteGuerin osteomyelitis in Japan identification of dominant partial interferon receptor 1 deficiency as a predominant type. J Infect Dis , Okada S, et althe novel IFNGR1 mutation 774del4 produces a truncated form of interferon receptor 1 and has a dominantnegative effect on interferon signal transduction. J Med Genet , Ku CL, et alinherited disorders of human Toll like receptor signalingimmunological implications. Immunol Rev , Zhang SY, et alhuman Tolllike receptor dependent induction of interferons in protective immunity to viruses. Immunol Rev , Minegishi Y, et alhuman tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity , Minegishi Y, et aldominantnegative mutations in the DNAbinding domain of STAT3 cause hyperige syndrome. Nature , Sochorova K, et alimpaired Tolllike receptor 8 mediated IL6 and TNF production in antigen presenting cells from patients with Xlinked agammaglobulinemia. Blood , Taneichi H, et altolllike receptor signaling is impaired in dendritic cells from patients with X linked agammaglobulinemia. Clin Immunol , 2008

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