RAPID Lite

CD40LG

mRNA IDs	Primary Information
NM_000074.2	Gene Symbol	CD40LG
	Protein Name	Cd40 ligand (tnf superfamily, member 5, hyper-igm syndrome)
	Alternate Names	CD154, CD40L, HIGM1, IGM, IMD3, T-BAM, TNFSF5, TRAP, gp39, hCD40L
	Gene Locus	Xq26

External links

IDR	HPRD	OMIM	Entrez Gene	NetPath	Reactome	PDB	HGNC	Ensembl	Swiss-Prot	RefDIC
16	02311	300386	959	NetPath_M959	959	1ALY 1I9R	11935	ENSG00000102245	P29965	CD40LG

Disease name	Characteristic / Associated features	Category	inheritance type
X-linked Hyper-IgM syndrome; CD40 ligand deficiency	Tonsillar hypertrophy; Gingivitis; Ulcerative stomatitis; Hepatomegaly; hepatitis; Splenomegaly; Diarrhea; Proctitis; Neutropenia, chronic or cyclic; Anemia; Hemolytic anemia; Thrombocytopenia; Immunodeficiency; Dysgammaglobulinemia; Primary dysfunction of B-lymphocyte isotype switching and memory B-cell generation; Lymph nodes lack germinal centers; Normal or increased IgM; Serum IgA, IgG, and IgE severely deficient; B-cell count normal; Decreased T cell activation; Recurrent bacterial infections; Pneumocytosis carinii infection; Pneumocytosis carinii infection; Opportunistic infections; cholangitis; higher risk of malignancy; IgM+ and IgD+ B cells present; hemolytic anemia	Combined T-cell and B-cell immunodeficiencies; Predominantly antibody deficiencies	X-linked recessive