55408 – Panel virtuel ciblé de gènes associés à l'hypogammaglobulinémie et à la dysrégulation immunitaire primitive (interprétation seulement) (RQDM)
Génétique - Génétique moléculaire
Gènes
ACD, ADA, ADA2, AICDA, AIRE, ARHGEF1, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BRCA1, BRCA2, BRIP1, BTK, CARD11, CASP8, CASP10, CCBE1, CD19, MS4A1, CR2, CD3D, CD3E, CD3G, CD247, CD40, CD40LG, CD55, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CHD7, CHUK, CIITA, COPG1, CORO1A, CRACR2A, CTC1, CTLA4, CTNNBL1, CXCR4, DCLRE1C, DIAPH1, DEF6, DKC1, DNMT3B, DOCK2, DOCK8, ELF4, EPG5, ERCC4, ERCC6L2, FADD, FAT4, FCHO1, FERMT1, FNIP1, FOXN1, FOXP3, GATA2, GINS1, HELLS, ICOS, ICOSLG, IGHM, IGLL1, IKBKB, IKBKG, IKZF1, IKZF2, IKZF3, IL10, IL10RA, IL10RB, IL21, IL21R, IL2RA, IL2RB, IL2RG, IL7R, INO80, IRF2BP2, IRF4, ITCH, ITK, ITPKB, JAK1, JAK3, KDM6A, KMT2A, KMT2D, LAT, LCK, LCP2, LIG1, LIG4, LRBA, LRRC8A, MAD2L2, MALT1, MAN2B2, MAP3K14, MCM10, MCM4, MECOM, MOGS, MRE11, MSH6, MSN, MYSM1, NBN, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NOP10, NSMCE3, OAS1, ORAI1, PALB2, PARN, PAX1, PDCD1, PEPD, PIK3CD, PIK3CG, PIK3R1, PLCG2, PMS2, PNP, POLA1, POLD1, POLD2, POLE, POLE2, POU2AF1, PRKDC, PSMB8, PSMB9, PTEN, PTPRC, RAC1, RAC2, RAD51, RAD51C, RAG1, RAG2, RBCK1, REL, RELA, RELB, RFWD3, RFX5, RFXANK, RFXAP, RHOH, RIPK1, RMRP, RNF168, RNF31, RNU4ATAC, RTEL1, SAMD9, SAMD9L, SASH3, SEC61A1, SH2D1A, SEMA3E, SH3KBP1, SKIV2L, SLC39A7, SLX4, SOCS1, SP110, SPI1, SRP72, STAT1, STAT3, STAT5B, STIM1, STK4, STN1, SYK, TAP1, TAP2, TAPBP, TBX1, TCF3, TERC, TERT, TGFB1, TINF2, TNFRSF13B, TNFRSF13C, TNFRSF4, FAS, TNFSF12, TNFSF13, FASLG, TOP2B, TP53, TPP2, TRAC, TRNT1, TTC37, TTC7A, TYK2, UBE2T, UNG, WAS, WIPF1, WRAP53, XRCC2, FANCG, ZAP70, ZBTB24
Indications cliniques
Erreurs innée de l'immunité
Laboratoires effectuant cette analyse
- Centre hospitalier universitaire Sainte-Justine
Laboratoire de diagnostic moléculaire
Responsable(s) : Dr Jean-François Soucy, Dre Catalina Maftel, Mme Mylène Dugas