Table E1.

Characteristics of patients with PHTS, including age, sex, clinical phenotype, genotype variation, protein variation, and immune phenotype

Patient no.	Sex	Age (y)	Phenotype	Genotype variation	Protein variation	Autoimmunity	Lymphoid hyperplasia
1	Male	65	CS/BRRS	c.395G>A	p.Gly132Asp		•
2	Male	49	CS	c.800delA	p.Lys267ArgfsX9	•
3	Female	34	CS	c.287C>G	p.Pro96Arg
4	Male	7	CS	c.18_19delAG	p.Glu7AspfsX3
5	Female	40	CS	c.1003C>T	p.Arg335X	•
6	Female	60	CS	c.1033C>G	p.Leu345Val		•
7	Female	49	CS	c.49C>T	p.Gln17X	•	•
8	Female	60	CS	c.697C>T	p.Arg233X
9	Male	25	CS	c.1-?_1212+?del			•
10	Female	14	CS	c.1003C>T	p.Arg335X
11	Male	48	CS	c.388C>T	p.Arg130X	•	•
12	Female	68	CS	c.126_127insTC	p.Glu43SerfsX12
13	Female	59	CS	c.1-?_1212+?del		•
14	Female	50	CS	c.235G>A	p.Ala79Thr	•
15	Male	5	CS	c.737C>T	p.Pro246Leu
16	Male	26	CS	c.382A>G	p.Lys128Glu	•
17	Male	40	CS	c.49C>T	p.Gln17X
18	Male	17	CS	c.49C>T	p.Gln17X
19	Female	14	CS	c.511C>T	p.Gln171X
20	Male	8	CS/BRRS	c.420_421insA	p.His141ThrfsX39
21	Male	43	CS/BRRS	c.441_442delGGinsA	p.Ala148HisfsX5
22	Female	64	CS	c.386G>A	p.Gly129Glu
23	Female	47	CS	c.401T>C	p.Met134Thr	•
24	Male	6	CS	c.388C>T	p.Arg130X	•
25	Male	14	CS	c.208C>G	p.Leu70Val	•
26	Male	13	ASD	c.3G>T	p.Met1Ile
27	Male	12	ASD	c.3G>T	p.Met1Ile
28	Female	4	ASD	c.3G>T	p.Met1Ile
29	Female	37	ASD	c.3G>T	p.Met1Ile
30	Male	8	CS/BRRS	c.1003C>T	p.Arg335X
31	Female	40	CS	c.751_752delGG	p.Gly251X	•
32	Female	51	CS	c.592_601del	p.Met198LysfsX19		•
33	Male	39	CS/LD	c.634+2T>C		•	•
34	Male	9	CS	c.491delA	p.Lys164ArgfsX2		•
35	Male	15	CS	c.26delT	p.Ser10AlafsX14		•
36	Female	21	CS	c.512_513insA	p.Arg172GlufsX8		•
37	Male	39	CS/BRRS	c.376G>C	p.Ala126Pro		•
38	Female	50	CS	c.389G>A	p.Arg130Gln		•
39	Male	56	CS	c.80-?_1212+?del
40	Female	53	CS	c.323T>C	p.Leu108Pro
41	Female	62	CS/LD	c.1027-2A>G
42	Male	12	BRRS	c.389G>A	p.Arg130Gln
43	Female	31	CS	c.445C>T	p.Gln149X	•	•
44	Female	39	CS	c.388C>T	p.Arg130X
45	Female	13	CS	c.388C>T	p.Arg130X
46	Male	41	CS	c.1027-1G>A
47	Male	8	BRRS	c.388C>T	p.Arg130X
48	Female	40	BRRS	c.388C>T	p.Arg130X
49	Male	6	BRRS	c.388C>T	p.Arg130X
50	Female	41	CS/LD	c.765dupA	p.Glu256ArgfsX42
51	Female	67	CS	c.106G>T	p.Gly36X
52	Female	14	CS	c.389G>A	p.Arg130Gln
53	Male	50	LD	c.388C>T	p.Arg130X		•
54	Female	10	BRRS	c.930_931delTA	p.Asp310GlufsX2
55	Male	48	BRRS	c.930_931delTA	p.Asp310GlufsX2	•	•
56	Male	58	CS/LD	c.534T>G	p.Tyr178X
57	Female	49	CS	c.493-?_1212+?del		•
58	Male	48	CS	c.593T>A	p.Met198Lys	•
59	Female	31	CS	c.73_74delTT	p.Leu25AspfsX17	•
60	Male	5	BRRS	c.445C>T	p.Gln149X	•
61	Male	50	BRRS	c.1008C>G	p.Tyr337X
62	Male	7	BRRS	c.540C>A	p.Tyr180X
63	Female	24	CS	c.264T>A	p.Tyr88X	•
64	Female	30	CS	c.491delA	p.Lys164ArgfsX3	•
65	Female	51	CS	c.802-2A>G
66	Female	30	CS	c.445C>T	p.Gln149X
67	Female	16	CS	c.80-?_164+?del
68	Female	16	CS	c.1008C>G	p.Tyr337X
69	Male	19	BRRS	c.389G>A	p.Arg130Gln		•
70	Male	5	unclassified	c.80-?_1212+?del			•
71	Male	58	CS/LD	c.534T>G	p.Tyr178X	•	•
72	Female	68	CS	c.334C>G	p.Leu112_Lys164del		•
73	Male	4	BRRS	c.404T>A	p.Ile135Lys
74	Female	37	CS	c.1-?_164+?del
75	Female	39	CS	c.141delG	p.Asn48ThrfsX6
76	Female	59	CS	c.1-?_164+?del
77	Male	36	CS	c.654C>A	p.Cys218X
78	Male	47	CS	c.176C>G	p.Ser59X
79	Male	65	CS	c.640C>T	p.Gln214X

BRRS, Bannayan-Riley-Ruvalcaba syndrome; CS, Cowden syndrome; LD, Lhermitte-Duclos disease.