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פאנלים
Autoinflammatory disorders
GC_57
Last update: 11.01.2026
Monogenic autoinflammatory and immune dysregulation disorders are inherited immune conditions characterized by recurrent, persistent, or otherwise unexplained inflammation in the absence of infection. These disorders may result from excessive activation of innate immune pathways, impaired regulation of adaptive immunity, or both.
Clinical manifestations may include periodic or persistent fever, rash, serositis, inflammatory bowel disease, vasculitis, cytopenias, lymphoproliferation, autoimmunity, and other features of systemic immune dysregulation.
This targeted panel includes genes associated with autoinflammatory syndromes, interferonopathies, inflammasome disorders, immune dysregulation syndromes, and selected primary immunodeficiencies with prominent hyperinflammatory manifestations.
This panel is recommended for patients with recurrent unexplained systemic inflammation, periodic fever, early-onset or severe autoimmunity, lymphoproliferation, cytopenias, or other findings suggestive of an inherited immune dysregulation disorder, particularly after infectious causes have been excluded.
ACP5, ADA, ADA2, ADAM17, ADAR, ADAR1, AICDA, ALPI, ALPK1, ANKZF1, AP1S3, AP3B1, ARPC1B, ATAD3A, BACH2, BTK, C17ORF62, C2orf69, CARD11, CARD14, CARD8, CARMIL2, CD3G, CD40, CD40LG, CD55, CDC42, CEBPE, COPA, CTLA4, CYBA, CYBB, DCLRE1C, DDX58, DKC1, DNASE1L3, DNASE2, DOCK8, DPP9, DUOX2, ELANE, ELF4, FCHO1, FOXP3, G6PC3, GATA2, HAVCR2, HCK, ICOS, IFIH1, IKBKG, IL10, IL10RA, IL10RB, IL17RA, IL1R1, IL1RN, IL21, IL2RA, IL2RB, IL2RG, IL36RN, IL6ST, ISG15, ITCH, ITGB2, JAK1, LACC1, LIG4, LPIN2, LRBA, LSM11, LYN, LYST, MEFV, MVK, NCF2, NCF4, NCKAP1L, NFAT5, NFKB1, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OAS1, OGFRL1, OTULIN, PDGFRA, PDGFRB, PIK3CD, PIK3CG, PIK3R1, PLCG1, PLCG2, PMVK, POLA1, POMP, PRF1, PRG4, PSENEN, PSMA3, PSMB10, PSMB4, PSMB8, PSMB9, PSMD12, PSMG2, PSTPIP1, RAB27A, RAG1, RAG2, RBCK1, RC3H1, RELA, RIPK1, RNASEH2A, RNASEH2B, RNASEH2C, RNU71, RTEL1, SAMHD1, SH2D1A, SH3BP2, SHARPIN, SI, SKIV2L, SLC29A3, SLC37A4, SLC7A7, SOCS1, STAT1, STAT2, STAT3, STAT4, STAT6, STIM1, STING1, STX11, STXBP2, SYK, TBK1, TGFB1, TGFBR1, TGFBR2, TLR8, TNFAIP3, TNFRSF1A, TREX1, TRIM22, TRNT1, TTC37, TTC7A, UBA1, UNC13D, USP18, WAS, XIAP, ZAP70, ZNF341
4th Floor, Davidoff Building,
Beilinson Hospital
39 Jabotinski St., Petah Tikva
49100 ISRAEL
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