Imunodeficiências primárias

Síndrome autoinflamatório

Lista de Genes
ACP5, ADA, ADA2, ADAM17, ADAR, AICDA, AP1S3, AP3B1, ATAD3A
BLOC1S6, BTK
C2orf69, CARD14, CD27, CD3G, CD40LG, CDC42, COPA, CTLA4, CYBA, CYBB
DCLRE1C, DKC1, DOCK11, DOCK8
ELANE
FBLIM1, FOXP3
G6PC3
HAX1
ICOS, IFIH1, IL10, IL10RA, IL10RB, IL1RN, IL21, IL2RA, IL2RG, IL36RN, ISG15, ITGB2, ITK
LIG4, LPIN2, LRBA, LYST
MEFV, MVK
NCF2, NCF4, NLRC3, NLRC4, NLRP1, NLRP12, NLRP3, NLRP7, NOD2
OTULIN
PIK3CD, PIK3R1, PLCG2, POLA1, POMP, PRF1, PSMB4, PSMB8, PSMB9, PSTPIP1
RAB27A, RAG1, RAG2, RBCK1, RNASEH2A, RNASEH2B, RNASEH2C, RNF31
SAMHD1, SH2D1A, SH3BP2, SLC29A3, SLC7A7, SOCS1, STAT1, STAT3, STIM1, STING1, STX11, STXBP2
TBK1, TNFAIP3, TNFRSF1A, TREX1, TRNT1, TTC7A
UNC13D, USP18
WAS
XIAP
ZAP70
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial mediante pedido