Imunodeficiências primárias

Síndrome de infecções recorrentes hiper IgE

Lista de Genes
CARD11 (HGNC:16393)
DOCK8 (HGNC:19191), DSG1 (HGNC:3048)
FOXP3 (HGNC:6106)
IL2RA (HGNC:6008), IL6R (HGNC:6019), IL6ST (HGNC:6021), IL7R (HGNC:6024)
PGM3 (HGNC:8907)
RAG1 (HGNC:9831), RAG2 (HGNC:9832)
SPINK5 (HGNC:15464), STAT1 (HGNC:11362), STAT3 (HGNC:11364), STAT5B (HGNC:11367), STAT6 (HGNC:11368)
TYK2 (HGNC:12440)
WAS (HGNC:12731)
ZNF341 (HGNC:15992)
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial mediante pedido