Imunodeficiências primárias

Doença inflamatória intestinal de início precoce

Lista de Genes
ADA, ADA2, ADAM17, AICDA, AIRE, ARPC1B
BACH2, BCL10, BTK
CD3G, CD40LG, CD55, COL7A1, CTLA4, CYBA, CYBB, CYBC1
DCLRE1C, DKC1, DOCK11, DOCK2, DOCK8, DUOX2
EPCAM
FERMT1, FOXP3
G6PC3, GATA2, GUCY2C
HPS1, HPS4, HPS6
ICOS, IKBKG, IL10, IL10RA, IL10RB, IL21, IL2RA, IL2RG, IRF2BP2, ITCH, ITGB2
LIG4, LRBA
MALT1, MASP2, MEFV, MVK, MYO5B
NCF1, NCF2, NCF4, NEUROG3, NFKBIA, NLRC4, NOD2, NPC1
OTULIN
PEPD, PIK3CD, PIK3R1, PLCG2, POU6F1, PTEN
RAG1, RAG2, RBCK1, RELA, RIPK1, RIPK2, RTEL1
SAMD9, SH2D1A, SKIC2, SKIC3, SLC26A3, SLC37A4, SLC9A3, STAT1, STAT3, STXBP2
TGFBR1, TGFBR2, TNFAIP3, TRIM22, TRNT1, TTC7A
WAS, WIPF1
XIAP
ZAP70, ZBTB24
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial mediante pedido