{{Rsnum
|rsid=193922135
|Chromosome=X
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=CD40LG
|position=136648279
|Gene_s=CD40LG
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=193922135
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=135730438
|CHROM=X
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050068000000000002100100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.135730438C>T
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=5
|CLNDBN=Immunodeficiency with hyper IgM type 1
|Disease=Immunodeficiency with hyper IgM type 1
|Tags=PM;PMC;OTHERKG;LSD
|CLNACC=RCV000029464.1
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK1402:C0398689:308230
|GENEINFO=CD40LG:959
|GENE_ID=959
|GENE_NAME=CD40LG
}}{{PMID Auto
|PMID=16169277
|Title=Critical function of the CD40 pathway in parvovirus B19 infection revealed by a hypomorphic CD40 ligand mutation.
}}

{{PMID Auto
|PMID=17351759
|Title=Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called "milder" mutants.
}}

{{PMID Auto
|PMID=18955577
|Title=Cerebral toxoplasmosis in a middle-aged man as first presentation of primary immunodeficiency due to a hypomorphic mutation in the CD40 ligand gene.
}}