Familial hemophagocytic lymphohistiocytosis, NGS


Identify genetic causes of familial hemophagocytic lymphohistiocytosis; guide urgent treatment.
Genelist (43): ADA, AP3B1, AP3D1, BLOC1S6, BTK, CD27, CD70, CORO1A, CTPS1, CYBB, FADD, FAS, FASLG, GATA2, IL2RA, IL2RG, ITK, LAMP1, LIPA, LYST, MAGT1, MEFV, MVK, MYO5A, NLRC4, NLRP3, PNP, PRF1, RAB27A, RAG1, RAG2, RECQL4, RHOG, SH2D1A, SLC7A7, STX11, STXBP2, TBXAS1, TNFRSF1A, UNC13D, WAS, XIAP, ZNFX1