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Table 1 (abstract P347). VOUS and VUS associated with AIF diseases that have been detected in our patients

From: Proceedings of the 25th European Paediatric Rheumatology Congress (PReS 2018)

MEFV

MVK

NOD2

TNFRSF1A

NLRP12

LPIN2

PLCG2

IL10RA

IL10RB

p.Glu148Gln ‡‡

p.Pro369Ser

p.Ser339Phe

p.Thr356Met*

p.Met950Leu**

p.Met513Thr†

p.Arg791Gln †

p.Asn145Ser

p.Arg568His

p.Arg121Gln‡

p.Thr861Ser***

p.Cys874Phe

p.Pro149Leu p.Pro626Ser

p.Lys387Glu

p.Glu601Lys

p.Glu601Lys

p.Asn798Ser

p.Ala313Gly

p.Pro522Arg

p.Ala420Thr

p.Glu58Lys P.Arg412Trp††

p.Val148Met

AP1S3

CARD14

CECR1

NLRP7

RBCK1

SH3BP2

SLC29A3

TMEM173

 

p.Phe4Cys

p.Met931Lys

p.Ser200Asn

p.Arg826Tr

p.Met267Ile

p.Arg156Gln

Cys399Tyr

p.Gly242Val

p.Pro347Arg

p.Ala212Val

p.Arg534Trp

p.Arg83His p.Glu331Lys

p.Ala313Thr p.Gly192Val

 
  1. No variants were detected in the following tested genes: IL1RN, NLRP3, PSMB8, PSTPIP1, IL10, IL36RN, NLRC4
  2. ‡‡ 2 patients with FMF, 2 patients with resolved PF; *HIDS; **IBD; †Blau, same patient; ‡TRAPS; ***infantile Raynaud’s Phenomenon; ††IBD