The Regen Center offers Autoinflammatory and Autoimmunity Syndromes DNA test to analyze genes that are associated with autoinflammatory and autoimmune diseases. Autoinflammatory disorders are mainly characterized by systemic inflammation due to incorrect activation of an protective immune response. Alternatively, autoimmune diseases are usually caused by some defects in adaptive immunity that over time leads to a loss of self-tolerance. Autoinflammatory & Autoimmune diseases both share similar symptom manifestations including self-directed inflammation in the absence of a known cause.
Primary DNA Test Panels for Autoinflammatory and Autoimmunity Syndromes include:
- ACP5
- ADA
- ADA2
- ADAM17
- ADAR
- AICDA
- AIRE
- ANKZF1
- AP3B1
- ARPC1B
- ASAH1
- BACH2
- BLOC1S6
- BTK
- C17orf62
- CARD14
- CARD8
- CASP10
- CASP8
- CCBE1
- CD27
- CD3G
- CD40
- CD40LG
- COPA
- CR2
- CTLA4
- CYBA
- CYBB
- DCLRE1C
- DDX58
- DEF6
- DKC1
- DNASE1L3
- DNASE2
- DOCK8
- DSG1
- DUOX2
- ELANE
- FADD
- FAS
- FASLG
- FCHO1
- FOXP3
- G6PC3
- ICOS
- IFIH1
- IL10
- IL10RA
- IL10RB
- IL1RN
- IL21
- IL21R
- IL2RA
- IL2RB
- IL2RG
- IL36RN
- IRF2BP2
- ITCH
- ITGAM
- ITGB2
- ITK
- JAK1
- LIG4
- LPIN2
- LRBA
- LYN
- LYST
- MAGT1
- MEFV
- MVK
- NCF2
- NCF4
- NFAT5
- NFKB1
- NFKB2
- NFKBIA
- NLRC4
- NLRP1
- NLRP12
- NLRP3
- NOD2
- OAS1
- ORAI1
- OTULIN
- PEPD
- PIK3CD
- PIK3R1
- PLCG2
- PNP
- POLA1
- POMP
- PRF1
- PRKCD
- PSMA3
- PSMB4
- PSMB8
- PSMG2
- PSTPIP1
- RAB27A
- RAC2
- RAG1
- RAG2
- RASGRP1
- RBCK1
- RFX5
- RFXANK
- RFXAP
- RIPK1
- RMRP
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNF31
- RTEL1
- SAMHD1
- SCO2
- SH2D1A
- SH3BP2
- SI
- SIAE
- SKIV2L
- SLC29A3
- SLC37A4
- SLC7A7
- STAT1
- STAT3
- STAT4
- STAT5B
- STIM1
- STX11
- STXBP2
- TBX1
- TGFB1
- TGFBR1
- TGFBR2
- TMEM173
- TNFAIP3
- TNFRSF11A
- TNFRSF13B
- TNFRSF13C
- TNFRSF1A
- TNFRSF6B
- TNFSF12
- TOP2B
- TPP2
- TREX1
- TRNT1
- TTC7A
- UNC13D
- UNG
- WAS
- XIAP
- ZAP70
- ZNF341
Optional
Additional panels for other autoinflammatory disorders caused by defects in adaptive immunity leading to loss of self-tolerance.
Autoimmune diseases and autoinflammatory diagnosis often clinical manifestations and cross-over between these disease groups has been recognized. Both types of conditions result in self-directed inflammation and recent research suggests considerable overlapping of molecular pathways that are involved in both.
- AIRE
- AP3B1
- BLOC1S6
- CASP10
- CASP8
- CD27
- CR2
- FADD
- FAS
- FASLG
- IL21R
- ITCH
- ITK
- LYST
- MAGT1
- NFKB2
- NFKBIA
- ORAI1
- PNP
- PRF1
- PRKCD
- RAB27A
- RAC2
- RFX5
- RFXANK
- RFXAP
- RMRP
- SLC7A7
- STAT5B
- STX11
- TBX1
- TNFRSF13B
- TNFRSF13C
- TNFSF12
- TPP2
- UNC13D
- UNG
Published Clinical Citations
[1] ^ Ciccarelli, F., De Martinis, M., & Ginaldi, L. (2014). An update on autoinflammatory diseases. Current medicinal chemistry, 21(3), 261–269.https://doi.org/10.2174/09298673113206660303
[2] ^ Arakelyan A, Nersisyan L, Poghosyan D, Khondkaryan L, Hakobyan A, Löffler-Wirth H, Melanitou E, Binder H. Autoimmunity and autoinflammation: A systems view on signaling pathway dysregulation profiles. PLoS One. 2017 Nov 3;12(11):e0187572. doi: 10.1371/journal.pone.0187572. PMID: 29099860; PMCID: PMC5669448https://pubmed.ncbi.nlm.nih.gov/29099860/
