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ICOS

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Colestase Intra-Hepática Progressiva Familiar (PFIC) Painel por Sequenciamento de Próxima Geração ABCB11, ABCB4, ABCC2, ACTG2, ADA, ADK, AICDA, AKR1D1, ALDOB, ATP7B, ATP8B1, ATRX, BAAT, BTK, CC2D2A, CD3G, CD40LG, CDX1, CFTR, CLDN1, CLMP, COG7, COL7A1, CTLA4, CYBA, CYBB, CYP27A1, DCDC2, DCLRE1C, DES, DGUOK, DMD, DOCK8, EDN3, EDNRB, EPCAM, FAH, FAM58A, FANCB, FERMT1, FLNA, FOXF1, FOXP3, G6PC3, GALT, GBA, GBE1, GLI3, GUCY2C, HADHA, HNF1B, HPS1, HPS4, HPS6, HSD3B7, ICOS, IDS, IKBKG, IL10, IL10RA, IL10RB, IL2RA, IL2RG, INVS, ITGB2, JAG1, KIF1BP (KIAA1279), L1CAM, LIG4, LIPA, LRBA, MED12, MEFV, MID1, MNX1, MPI, MPV17, MVK, MYO5B, NCF1, NCF2, NOTCH2, NPC1, NPC2, NR1H4, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX6, PHOX2B, PIK3CD, POLG, PTEN, RAG1, RAG2, RECQL4, RET, RRM2B, RTEL1, SALL1, SAMD9, SCN11A, SH2D1A, SKIV2L, SLC25A13, SLC37A4, SMPD1, SOX10, STAT1, STAT3, STXBP2, TALDO1, TGFBR1, TGFBR2, TJP2, TMEM70, TRMU, TTC37, TTC7A, TYMP, UGT1A1, VIPAS39, VPS33B, WAS, XIAP, ZEB2. ZIC3
Hipogamaglobulinemias Painel por Sequenciamento de Próxima Geração TACI, NFKB1, LRBA, CTLA4, PIK3CD, PIK3R1, ICOS, CD27, ITK, CD19, CD20, CD81, AICD, UNG, CD40
Imunodeficiência Variavel Comum Painel por Sequenciamento de Próxima Geração AICDA, AKT1, BLNK, BTK, CD19, CD27, CD40, CD40LG, CD79A, CD79B, CD81, CD86, CR2, CTLA4, CXCL12, CXCR4, DCLRE1C, GATA2, ICOS, IGLL1, IKBKB, IKBKG, IL17A, IL17F, IL21, IL21R, IRF4, LRRC8A, MLH1, MS4A1, NFKB1, NFKBIA, PDCD1, PIK3CD, PIK3R1, RAG1, RAG2, SH2D1A, STAT1, STAT3, TCF7, TFRC, TGFB1, TGFB2, TGFB3, TNFRSF13B, TNFRSF13C, TNFRSF4, TNFSF10, TNFSF13, TNFSF13B
Imunodeficiência Comum Variável Autossômica Recessiva Painel por Sequenciamento de Próxima Geração AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, DKC1, DNMT3B, ICOS, IGLL1, LRBA, LRRC8A, MS4A1, NFKB2, PIK3CD, PIK3R1, PRKCD, RTEL1, TCF3, TCF4, TNFRSF13B, TNFRSF13C, TNFSF12, UNG
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