Table 1.

Details of patients whose CD40 ligand (CD40L) expression was analysed by immunostaining

Patient	CD40L expression	Age	IgM	IgA	IgG	Mutation	Evidence of mutation being disease causing
1	Weak	11 years	H	H	H	Not done
2	Weak	11 years	L	L		No sample
3	Weak	2 months	N	N	N	Not done
4	Weak	3 months	N	N	N	Not done
5	Weak	3 years	N	H		Not done
6	Weak	15 years	L	L		None found
7	Weak	11 years	L	L	L	None found
8	Weak	13 years	L	L	L	Not done
9	Weak	18 years	N	N	N	Not done
10	Weak	45 years	N	H	R	Not done
11	Weak	5 months	N	N	M	None found
12	Weak	1 years				None found
13	Weak	1 years			L	Not done
14	Weak	32 years	N	L	H	No sample
15	Weak	1 month				None found
16	Weak	3 months				None found
17	Absent	9 years	L	L	L	W140G (c.418t→g) Exon 5	Mutation previously described15
						AC: 4M0002313 C007014	Disrupts conserved a.a. in TNF homology domain
18	Absent	18 years	H	L	L	c.444-448gagca→c Exon 5	Patient previously described16
						AC: 4M0003613 C002914	Disrupts reading frame
19	Absent	13 years	L	L	R	G38R(c.112g→c) Exon 1	Patient previously described16
						AC: 4M00018 & 4M0001913 C002814	Disrupts transmembrane domain
20	Absent	3 months	H	H	N	No sample
21	Absent	1 years	N	L	L	c.302-303insA Exon 3	Reading frame shift
22	Absent	4 months	H	L	L	IVS3+1g→t	May affect splicing
23	Absent	15 years	N	L	R	IVS3-915a→t	May affect splicing
24	Absent	3 years	L	L	L	c.158-161delTAGA Exon 2	Mutation previously described14
25	Absent	20 years	H	L	R	c.158-161 delTAGA Exon 2	Mutation previously described14
26	Absent	29 years				c.539delA Exon 5	Reading frame shift
27	Absent	29 years	H	L	L	c.508-516delTATATCTAT Exon 5	3 a.a. deletion from TNF homology domain
28	Absent	3 years	N	L	L	None found
29	Absent	1 years				c.521-522delAA Exon 5	Reading frame shift
30	Absent	2 months	N	L	M	Q174R (c.521a→g) Exon 5	Relative previously described.16 Arisen de novo
						AC: 4M0002513 C003814*	Great grandmother did not carry the mutation
31	Absent	11 years	H	L		T254M (c.761c→t) Exon 5	Mutation previously described16
						AC: 4M00021 & 4M0002213	Not seen in 100 normal chromosomes
32	Absent	2 months				c.242-243insT Exon 2	Relative previously described16
						AC: 4M0004713 C000814
33	Absent	10 years	H	L		del ex 5 Exon 5	Mutation previously described16
						AC: 4M0003513
34	Absent	16 years	L	L	R	G257S (c. 769g→a) Exon 5	Patient previously described14,16
						AC: 4M0002013 C003014	Disrupts conserved a.a. in TNF homology domain
35	Absent	29 years				T254M (c.761c→t) Exon 5	Mutation previously described14
							Not found in 100 normal X chromosomes
36	Absent	4 months	N	L	L	c.511-512delAT Exon 5	Reading frame shift
37	Absent	13 years	H	L		L155P (c.464t→c) Exon 5	Mutation previously described14
							Not found in 100 normal X chromosomes
3	Present	4 months	N	N	M
38	Present	7 years	L	L	L
39	Present	8 years	L	L	N
40	Present	6 years	L	L	L
41	Present	5 years	L	L	L
42	Present	11 years	N	N	N
43	Present	49 years	H	N	N
44	Present	20 years	L	L	L
45	Present	4 years	N	N	N
46	Present	4 years	N	N	N
47	Present	9 months	N	L	N
48	Present	10 years	N	L	L
49	Present	4 months	H	H	N
50	Present	19 years	N	N	L
51	Present	1 years
52	Present	4 years	N	N	N
53	Present	23 years
54	Present	14 years	N	L	N
55	Present	7 years
56	Present	7 years	N	N	N
57	Present	11 months	N	N	L
58	Present	23 years	N	N	L
59	Present	12 years	L	L	L
60	Present	23 years	N	H	L
61	Present	45 years	L	L	L
62	Present	23 years	N	N	N
63	Present	41 years	H	N	N
64	Present	2 months	H	N	H
65	Present	8 years	N	N	L

CD40L expression is described as present, absent, or weak. The age listed is the age of the patient when immunostaining was performed. Immunoglobulin concentrations are listed as high (H), normal (N), low/absent (L), maternal (M), or replacement (R) using age appropriate normal ranges. Mutation data are only presented for TNFSF5 gene analysis—the exon/intron in which the mutation resides is given, together with the reference if previously reported, and CD40Lbase accession number (AC). Mutation nomenclature is according to the nomenclature working group.¹⁷ *Accession number for a relative. a.a., amino acid.