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Report for Mutation R620W

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Analysis of B Cells From Autoimmune Individuals

This observational study aims at finding out if individual with autoimmunity exhibit increased numbers of B cells that express two types (instead of one type) of antibodies, and if B cells of individuals genetically susceptible to autoimmunity display defects in the biological process of tolerance, which removes B cells that participate in autoimmunity.

NCT02747277 Lupus Erythematosus Rheumatoid Arthritis Type 1 Diabetes
MeSH: Arthritis Arthritis, Rheumatoid Diabetes Mellitus, Type 1
HPO: Arthritis Polyarticular arthritis Rheumatoid arthritis Type I diabetes mellitus

Moreover, data will also be stratified in respect to the presence or absence of the PTPN22-R620W allele, which is a risk allele for autoimmunity.. Inclusion Criteria: - Adult Males and Females diagnosed with Lupus; - Adult Females who are pregnant and diagnosed with: - lupus erythematosus - rheumatoid arthritis, or - type 1 diabetes. --- R620W ---

Primary Outcomes

Description: For peripheral adult blood, the main outcome measure is the frequency of κ/λ (kappa to lambda ratios) dual immunoglobulin B cells within the overall B (CD19+ or CD20+) cell population. The collected data will be aggregated as the average frequency of κ/λ B cells in subjects with autoimmunity relative to healthy controls.

Measure: Frequency of kappa to lambda ratios of B cells in blood of autoimmune adults

Time: 1 day

Description: For cord blood samples, the main outcome measurement is the frequency of B cells that express both low levels of CD19 and IgM within the total (CD19+ or CD20+) B cell population. The collected data will be aggregated as the average frequency of CD19low/IgMlow B cells in subjects that were born from autoimmune mothers relative to those born from healthy mothers. Moreover, data will also be stratified in respect to the presence or absence of the PTPN22-R620W allele, which is a risk allele for autoimmunity.

Measure: Frequency of CD19 and IgM low B cells in cord blood of babies born from autoimmune mothers

Time: 1 day


HPO Nodes


Rheumatoid arthritis
Genes 28
NFKBIL1 ACP5 PTPN2 LACC1 IL2RB SLC22A4 IL6 HLA-DRB1 PTPN22 CD244 PTPN22 ANKRD55 STAT4 ANKRD55 IL2RB PADI4 PTPN22 IL2RA CIITA STAT4 IL2RA IL10 CD247 PTPN2 CD247 GCH1 MIF DCLRE1C
Type I diabetes mellitus
Genes 51
COX1 EDA2R TRNF SLC12A3 TRNH CFTR CORIN EIF2AK3 ND1 SLC16A2 MMP2 TRNE NEUROG3 DNAJC21 CNOT1 ND4 STOX1 TRNW COX3 FOXP3 TRNL1 EDA MMP14 PRSS1 TCF4 HNF1A EFL1 KCTD1 COX2 SRP54 TRNQ TRNS2 STUB1 DNAJC3 MST1 TTC7A ND6 PSTPIP1 FLT1 TRNS1 INS CLCNKB ND5 CTRC ITCH SBDS FOXP3 AIRE SPINK1 GPR35 STAT1
Arthritis
Genes 263
COL5A2 HPGD COL1A1 CANT1 HJV TRPV4 CCR1 HNF1B PTPN2 LACC1 BTK TFR2 HOXD10 CLCN7 COL9A2 PTPN22 MMP2 NLRP3 STAT4 GHR RNF168 TREX1 COL9A3 PADI4 SLC40A1 WIPF1 COL2A1 MMP14 RASGRP1 PRKCD SEC61A1 SLC37A4 COL2A1 HNF1B TBX1 PTPN22 STAT4 MEFV AEBP1 COL2A1 IL2RB HLA-DRB1 HGD PSTPIP1 ANKRD55 FBN1 GBA HPGD CCN6 ANKRD55 FGFR3 NOD2 ACAN COMP HPRT1 AGA IRF5 NLRC4 MUC1 IL12B GNAS HPGD MATN3 CASP10 ASAH1 COMP MYH14 HIRA SLCO2A1 SLC22A4 HLA-B FRZB CD244 PRG4 COL11A2 LMX1B TNFRSF1A ACAN TGFB3 STAT4 COL11A1 IL10 MEFV LRP6 RAG2 IFIH1 TRAPPC2 LBR IL10 COL5A1 IGHM LEMD3 HLA-DRB1 DNASE1 COMP SH3KBP1 NFKBIL1 IL12A-AS1 IL12A ARVCF COL2A1 CLCN7 IL23R KIF7 DNASE1L3 SEC24C IL6 FCGR2A COL9A3 SLC37A4 AIP SPTB HPRT1 GDF5 COL2A1 JMJD1C TCF3 IL2RB COMP HLA-B TRAPPC2 COL5A1 HNF4A F9 COMT UFD1 SMAD3 STAT3 HPRT1 HGD SPTA1 GJB6 ATP7B COL9A1 F8 BLNK PTPN22 APOE UMOD TREX1 MMP13 ZNF687 NLRP3 GJB2 PSMB9 PTPN22 TF CD79B COL2A1 MMP13 LMNA UFSP2 ERAP1 LRBA COPA CCR6 COL9A2 ABCG8 TRPS1 CD247 MIF C1R GP1BB PFKM LRRC8A FAS PHEX UMOD ANKH G6PC FCGR2B COL2A1 CCN6 IGLL1 CAV1 PSTPIP1 NLRP12 KIF22 ANKH SPP1 ATP7B CTLA4 CD79A SLC4A1 RNASEH2B EPCAM FAS NLRP3 CCN2 WAS COL1A1 PSMB4 UFSP2 TLR4 STAT4 MVK ACP5 MATN3 HPRT1 SLC12A3 BTK MTHFD1 ADA2 RAG1 PIK3R1 SCARB2 OCRL ADAR HLA-DRB1 RREB1 COL11A2 RNASEH2C PTPN22 GPR101 IL36RN CIITA C1QA SLC26A2 NLRP3 PHEX RNASEH2A KLRC4 COL2A1 ZMPSTE24 CD247 CFI UBAC2 BTK HLA-B DNAJB11 GCH1 FAS C4A COL11A2 EPB42 PRPS1 IRAK1 EXT2 MEFV MEFV GLA ACAN FASLG MVK MATN3 CLCNKB IL2RA EXT1 ASPN COL3A1 IL2RA TBX1 COL9A1 NOD2 HLA-C COL2A1 ANK1 TRPV4 SAMHD1 PTPN2 SMAD3 MLX DCLRE1C