Table 2

Monoallelic variants in genes associated with monogenic autoinflammatory disorders or other inborn errors of immunity associated with immune dysregulation, identified in patients with PsA

Patient ID	Age	Sex	Gene	Inheritance of gene-associated disorder	Refseq transcript	Coding change	Protein change	gnomAD allele freq.	RS-ID	CADD score	MSC-CADD score	Poly- Phen2 score	Poly- Phen2 Pred.	SIFT score	SIFT Pred.
3	70	F	NOD2	AD	NC_000016.9	c.1211C>T	p.Ser404Leu	0.0009499	rs104895431	21.400	0.019	0.266	Benign	0.020	D
3	70	F	NOD2	AD	NC_000016.9	c.2377G>A	p.Val793Met	0.001147	rs104895444	22.000	0.019	0.134	Benign	0.110	T
4	60	F	RNASEH2B	AR	NM_024570.3	c.868G>A	p.Asp290Asn	0.0004186	rs201190805	33.000	0.278	0.987	Probably damaging	0.660	T
6	67	F	NOD2	AD	NC_000016.9	c.1214C>T	p.Ala405Val	0.0001773	rs2076754	22.700	0.019	0.909	Probably damaging	0.050	D
6	67	F	HAVCR2	AR	NM_032782.4	c.830C>T	p.Pro277Leu	0.00788	rs72805186	20.300	3.313	0.265	Benign	0.000	D
7	44	F	TYK2	AR	NM_003331.4	c.3028G>A	p.Gly1010Ser	NA	NA	35.000	26.100	0.989	Probably damaging	0.000	D
11	49	M	AP1S3	AD	NC_000002.11	c.11T>G	p.Phe4Cys	0.007891	rs116107386	34.000	25.600	0.997	Probably damaging	0.000	D
12	23	F	TNFAIP3	AD	NC_000006.11	c.207C>G	p.Ile69Met	0.00002475	rs548932103	16.550	3.313	0.230	Benign	0.010	D
13	62	F	AP1S3	AD	NC_000002.11	c.11T>G	p.Phe4Cys	0.007891	rs116107386	34.000	25.600	0.997	Probably damaging	0.000	D
20	52	F	SH3BP2	AR	NC_000004.11	c.724del	p.His242Thrfs*36	0.0001389	rs747250901	25.700	23.900	NA	NA	NA	NA
21	33	F	COPA	AD	NM_001098398.1	c.479G>A	p.Arg160His	NA	NA	35.000	3.313	1.000	Probably damaging	0.000	D
22	20	F	TNFRSF1A	AD	NM_001065.3	c.334G>A	p.Val112Met	0.00005172	rs201753543	26.100	0.015	0.417	Benign	0.110	T
23	79	F	IL1RN	AR	NM_001318914.1	c.170G>T	p.Cys57Phe	0.0002121	rs201638660	29.000	23.600	0.999	Probably damaging	0.200	T
24	61	F	LIG4	AR	NC_000013.10	c.192_193del	p.Phe64Leufs*21	NA	NA	29.400	0.001	NA	NA	NA	NA
26	56	F	IFIH1	AR	NM_022168.3	c.1312T>C	p.Ser438Pro	0.0001456	rs139714761	26.200	19.330	0.973	Probably damaging	0.010	D
27	52	F	PLCG2	AD	NM_002661.3	c.707C>T	p.Pro236Leu	0.0003168	rs199760975	28.200	3.313	0.999	Probably damaging	0.060	T
			PLCG2	AD	NM_002661.3	c.82A>T	p.Met28Leu	0.01057	rs61749044	24.000	3.313	0.813	Possibly damaging	0.230	T
			HAVCR2	AR	NM_032782.4	c.291A>G	p.Ile97Met	0.002885	rs35960726	23.700	3.313	1.000	Probably damaging	0.250	T
31	25	M	HAVCR2	AR	NM_032782.4	c.302C>T	p.Thr101Ile	0.006496	rs147827860	24.400	3.313	0.696	Possibly damaging	0.080	T
38	65	M	RNASEH2A	AR	NM_006397.2	c.488C>T	p.Thr163Met	0.00001061	rs1046057251	29.400	10.530	0.997	Probably damaging	0.010	D
39	55	M	AP1S3	AD	NM_001039569.1	c.97C>T	p.Arg33Trp	0.007746	rs138292988	34.000	25.600	0.997	Probably damaging	0.000	D
47	28	F	IFIH1	AR	NM_022168.3	c.1853G>A	p.Arg618Gln	0.00007437	rs200017837	35.000	19.330	0.999	Probably damaging	0.030	D
53	50	F	HAVCR2	AR	NM_032782.4	c.291A>G	p.Ile97Met	0.002885	rs35960726	23.700	3.313	1.000	Probably damaging	0.250	T
53	50	F	PSMG2	AR	NC_000018.9	c.467C>A	p.Thr156Lys	0.000004061	rs1373908039	34.000	5.584	0.997	Probably damaging	0.120	T
57	29	F	NFKB1	AD	NM_003998	c.322C>T	p.His108Tyr	0.000006574	rs749065614	27.500	3.313	0.632	Possibly damaging	0.010	D
58	50	F	PSMB9	AR	NC_000006.11	c.548T>C	p.Met183Thr	0.00007498	rs369986248	23.700	12.114	0.084	Benign	NA	NA
61	20	M	RNASEH2B	AR	NM_001142279.2	c.338T>G	p.Leu113Arg	NA	NA	31.000	0.278	0.972	Probably damaging	0.020	D
63	72	F	LPIN2	AR	NM_014646.2	c.1510C>T	p.Leu504Phe	0.002562	rs104895500	28.400	16.710	0.629	Possibly damaging	0.010	D
64	61	F	COPA	AD	NC_000001.10	c.1873A>G	p.Ile625Val	0.00001975	rs539596065	23.200	3.313	0.027	Benign	0.030	D
64	61	F	PLCG2	AD	NM_002661.3	c.77C>T	p.Thr26Met	0.0005848	rs189301790	24.300	3.313	0.002	Benign	0.020	D
65	34	M	NLRP12	AD	NM_001277126.1	c.616C>T	p.Arg206Cys	0.00008377	rs111754022	23.700	23.600	0.970	Probably damaging	0.130	T
67	55	F	LPIN2	AR	NM_014646.2	c.1510C>T	p.Leu504Phe	0.002562	rs104895500	28.400	16.710	0.629	Possibly damaging	0.010	D
70	63	M	NLRP12	AD	NM_001277126.1	c.910C>T	p.His304Tyr	0.004426	rs141245482	24.000	23.600	0.958	Probably damaging	0.040	D
75	46	M	TREX1	AR	NC_000003.11	c.341G>A	p.Arg114His	0.0003023	rs72556554	28.100	5.605	1.000	Probably damaging	0.010	D
80	50	M	CARD14	AD	NC_000017.10	c.249C>A	p.Asn83Lys	0.000003979	rs148170776	26.000	0.046	0.859	Possibly damaging	0.570	T
80	50	M	TNFAIP3	AD	NC_000006.11	c.281C>T	p.Ala94Val	0.00001195	rs776714084	31.000	3.313	0.156	Benign	0.010	D
81	53	M	NLRP12	AD	NM_001277126.1	c.428G>A	p.Arg143His	0.00001194	rs760185291	31.000	23.600	0.945	Probably damaging	0.010	D
86	36	F	AP1S3	AD	NM_001039569.1	c.97C>T	p.Arg33Trp	0.007746	rs138292988	34.000	25.600	0.997	Probably damaging	0.000	D
90	44	F	ADAR	AR	NM_001111.4	c.577C>G	p.Pro193Ala	0.002142	rs145588689	23.900	0.500	0.99P8	Probably damaging	0.000	D
91	61	F	IL1RN	AR	NM_001318914.1	c.170G>T	p.Cys57Phe	0.00021	rs201638660	29.000	23.600	0.999	Probably damaging	0.200	T
91	61	F	NOD2	AD	NC_000016.9	c.485C>T	p.Thr162Met	0.002301	rs61755182	26.000	0.019	0.911	Probably damaging	0.060	T
98	39	F	PLCG2	AD	NM_002661.3	c.1194C>G	p.Ser398Arg	0.000004066	rs1051315426	23.600	3.313	0.090	Benign	NA	NA
98	39	F	DDX58	AD	NM_014314.3	c.212G>A	p.Arg71His	0.009546	rs72710678	32.000	26.200	0.657	Possibly damaging	0.010	D
115	55	F	AP1S3	AD	NM_001039569.1	c.97C>T	p.Arg33Trp	0.007746	rs138292988	34.000	25.600	0.997	Probably damaging	0.000	D
116	53	F	PLCG2	AD	NM_002661.3	c.77C>T	p.Thr26Met	0.0005848	rs189301790	24.300	3.313	0.002	Benign	0.020	D

AD, autosomal dominant; AR, autosomal recessive; CADD, Combined Annotation Dependent Depletion; D, damaging; F, female; freq, frequency; gnomAD, Genome Aggregation Database; MSC, Mutation Significance Cut-off; NA, not available; Patient ID, patient identification number; Pred., prediction; Refseq, reference sequence; SIFT, sorting intolerance from tolerance; T, tolerated.