Imunodeficiências primárias

Neutropenia alargado

Lista de Genes
ABCD4, ACKR1, ACP5, ADA2, AGA, AK2, AMT, AP3B1, AP3D1, AUH
BLNK, BLOC1S3, BRAF, BTK
CASP10, CD40, CD40LG, CD79A, CEBPA, CIITA, CLPB, COG4, CSF3R, CTSC, CXCR2, CXCR4
DBF4, DIAPH1, DNAJC21, DNM2
EFL1, ELANE, EPG5, ETV6
FAM111A, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCI, FAS, FASLG, FBXL4, FCHO1, FDX2, FH, FIBP, FMO3, FUT8
G6PC1, G6PC3, G6PD, GATA1, GATA2, GCSH, GFI1, GINS1, GLDC, GSS, GTF2H5
HAX1, HPS5, HTRA2, HUWE1, HYOU1
ICOS, IRAK4, IREB2
JAGN1
KRAS
LAMTOR2, LEF1, LMBRD1, LRBA, LYST
MAD2L2, MAGT1, MDM4, MECOM, MLH1, MMAA, MMAB, MMACHC, MPL, MRTFA, MSN, MTR, MVK, MYD88, MYSM1
NRAS
OPA3, ORAI1
PACS2, PCCA, PCCB, PGM3, PIK3R1, PNP, PRDM5, PRDX1
RAB27A, RAC2, RAG1, RELA, RFX5, RFXANK, RFXAP, RPL11, RPL18, RPL26, RPL5, RPS14, RPS19, RPS7, RUNX1
SAMD9, SAMD9L, SBDS, SEC61A1, SLC19A2, SLC33A1, SLC35A1, SLC37A4, SLC46A1, SMARCAL1, SMARCD2, SOCS1, SRP54, STAT3, STK11, STK4, STX11
TAFAZZIN, TALDO1, TCIRG1, TCN2, TDP2, TFR2, TFRC, THG1L, TONSL, TPP2
UGT1A1, UNC13D, USB1
VPS13B, VPS33A, VPS45
WAS, WDR1, WFS1, WIPF1
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial mediante pedido