. 2020 Nov 20;3:100071. doi: 10.1016/j.jtauto.2020.100071

Table 2.

Reported mutations in genes involved in the pathomechanism in PGAAIS with the corresponding protein alteration and associated distinct PGAAIS syndromes are shown.

Gene	Mutation	Protein Change	PGAAIS	Reference
PTSPIP1/CD2BP1	c.1034 A > G	p.Y345C	PASH	[43]
	c.1213C > T	p.R405C	PASH	[40]
	c.773G > C	p.G258A homozygous	PAPA-like	[22]
	c.904G > A	p.A230T	PAPA/FRA	[12,25,26]
	c.964G > C	p.E250Q	PAPA/FRA	[12,25,26]
	n/a	p.V344I	PAPA	[27]
	n/a	p.E256G
	n/a	p.G904A
	n/a	p.E256G		[16]
	n/a	p.D266 N		[28]
	c.736G > A	p.D246 N		[29]
	n/a	p.E250K		[13,23,24]
	n/a	p.E250K	PAMI	[16]
	n/a	p.E257K	PAMI	[16]
	n/a	p.G258A heterozygous	PG	[4]
	c.1207G > C	p.G403R	PAC	[51]
	c.831G > T	p.E277D	PAPASH	[9]
NCSTN	c.344_351del	p.T115 N∗20	PASH	[42]
MEFV	Chr16:3293880 A > G	p.I1591T	PASH	[41]
	chr16:3293407 T > C	p.M694V	PAPASH
	chr16:3293310 A > G	p.V726A	PAPASH
NOD2	Chr16:50745926C > T	p.R702W	PASH
NOD2	Chr16:50756540G > C	p.G908R	PASH
NLRP3	Chr1:247588858C > A	p.Q703K	PASH
IL1RN	chr2:113890284G > A	p.A106T	PAPASH
PSMB8	Chr6:32811752C > T	p.G8R	Overlap PASS/SAPHO