Table 1

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

PatientCD40L expressionAgeIgMIgAIgGMutationEvidence of mutation being disease causing
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.
1Weak11 yearsHHHNot done
2Weak11 yearsLLNo sample
3Weak2 monthsNNNNot done
4Weak3 monthsNNNNot done
5Weak3 yearsNHNot done
6Weak15 yearsLLNone found
7Weak11 yearsLLLNone found
8Weak13 yearsLLLNot done
9Weak18 yearsNNNNot done
10Weak45 yearsNHRNot done
11Weak5 monthsNNMNone found
12Weak1 yearsNone found
13Weak1 yearsLNot done
14Weak32 yearsNLHNo sample
15Weak1 monthNone found
16Weak3 monthsNone found
17Absent9 yearsLLLW140G (c.418t→g) Exon 5Mutation previously described15
AC: 4M0002313 C007014Disrupts conserved a.a. in TNF homology domain
18Absent18 yearsHLLc.444-448gagca→c Exon 5Patient previously described16
AC: 4M0003613 C002914Disrupts reading frame
19Absent13 yearsLLRG38R(c.112g→c) Exon 1Patient previously described16
AC: 4M00018 & 4M0001913 C002814Disrupts transmembrane domain
20Absent3 monthsHHNNo sample
21Absent1 yearsNLLc.302-303insA Exon 3Reading frame shift
22Absent4 monthsHLLIVS3+1g→tMay affect splicing
23Absent15 yearsNLRIVS3-915a→tMay affect splicing
24Absent3 yearsLLLc.158-161delTAGA Exon 2Mutation previously described14
25Absent20 yearsHLRc.158-161 delTAGA Exon 2Mutation previously described14
26Absent29 yearsc.539delA Exon 5Reading frame shift
27Absent29 yearsHLLc.508-516delTATATCTAT Exon 53 a.a. deletion from TNF homology domain
28Absent3 yearsNLLNone found
29Absent1 yearsc.521-522delAA Exon 5Reading frame shift
30Absent2 monthsNLMQ174R (c.521a→g) Exon 5Relative previously described.16 Arisen de novo
AC: 4M0002513 C003814*Great grandmother did not carry the mutation
31Absent11 yearsHLT254M (c.761c→t) Exon 5Mutation previously described16
AC: 4M00021 & 4M0002213Not seen in 100 normal chromosomes
32Absent2 monthsc.242-243insT Exon 2Relative previously described16
AC: 4M0004713 C000814
33Absent10 yearsHLdel ex 5 Exon 5Mutation previously described16
AC: 4M0003513
34Absent16 yearsLLRG257S (c. 769g→a) Exon 5Patient previously described14,16
AC: 4M0002013 C003014Disrupts conserved a.a. in TNF homology domain
35Absent29 yearsT254M (c.761c→t) Exon 5Mutation previously described14
Not found in 100 normal X chromosomes
36Absent4 monthsNLLc.511-512delAT Exon 5Reading frame shift
37Absent13 yearsHLL155P (c.464t→c) Exon 5Mutation previously described14
Not found in 100 normal X chromosomes
3Present4 monthsNNM
38Present7 yearsLLL
39Present8 yearsLLN
40Present6 yearsLLL
41Present5 yearsLLL
42Present11 yearsNNN
43Present49 yearsHNN
44Present20 yearsLLL
45Present4 yearsNNN
46Present4 yearsNNN
47Present9 monthsNLN
48Present10 yearsNLL
49Present4 monthsHHN
50Present19 yearsNNL
51Present1 years
52Present4 yearsNNN
53Present23 years
54Present14 yearsNLN
55Present7 years
56Present7 yearsNNN
57Present11 monthsNNL
58Present23 yearsNNL
59Present12 yearsLLL
60Present23 yearsNHL
61Present45 yearsLLL
62Present23 yearsNNN
63Present41 yearsHNN
64Present2 monthsHNH
65Present8 yearsNNL