Table 1

 CD40L mutations in 11 Australian patients

Patient no/age at diagnosisCD40L expression (FC)Exon/intronNucleotide changeAA changeEffectCD40L databaseCarrier status
The mutation nomenclature follows the guidelines of den Dunnen and Antonarakis10 and HUGO (www.hgvs.org/mutnomen/). The numbering of nucleotide and amino acid positions refers to the cDNA sequence (GeneBank accession number L07414.1), where the A of the ATG translation initiation start site represents nucleotide +1. The reported age is the age of the patient when flow cytometry and molecular analysis were performed.
*New mutation.
A, aunt; AA, amino acid; FC, flow cytometry; GM, grandmother; M, mother; ND, not done; S, sister.
1/1 yearAbsentExon 3c.322G>T*E108XNot reportedM+
2/1 yearAbsentIntron 3c.346+2T>CSkipping of exonReported6M+, GM+, S+, S−
3/2 yearsAbsentExon 4c.368C.>AA123EAA change in TNFα domainReported2M+, GM+
4/12 yearsAbsentIntron 4c.409+1G>AAA change in TNFα domainReported6ND
5/6 yearsAbsentExon 5c.420G>TW140CAA change in TNFα domainReported6ND
6/20 yearsPresentExon 5c.431G>AG144EAA change in TNFα domainReported7M+, GM+, A+
7/27 yearsAbsentExon 5c.464T>CL155PAA change in TNFα domainReported8M −, S−, S −
8/13 years, cousin of 9AbsentExon 5c.499G>T*G167XNot reportedND
9/14 years, cousin of 8AbsentExon 5c.499G>T*G167XNot reportedM+
10/1 yearAbsentExon 5c.521A>GQ174RAA change in TNFα domainReported9ND
11/5 yearsAbsentExon 5c.654C>A*C218XNot reportedS−