RGD Reference Report - Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. - Rat Genome Database

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Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

Authors: Ferrari, S  Giliani, S  Insalaco, A  Al-Ghonaium, A  Soresina, AR  Loubser, M  Avanzini, MA  Marconi, M  Badolato, R  Ugazio, AG  Levy, Y  Catalan, N  Durandy, A  Tbakhi, A  Notarangelo, LD  Plebani, A 
Citation: Ferrari S, etal., Proc Natl Acad Sci U S A. 2001 Oct 23;98(22):12614-9.
RGD ID: 1599479
Pubmed: PMID:11675497   (View Abstract at PubMed)
PMCID: PMC60102   (View Article at PubMed Central)
DOI: DOI:10.1073/pnas.221456898   (Journal Full-text)

CD40 is a member of the tumor necrosis factor receptor superfamily, expressed on a wide range of cell types including B cells, macrophages, and dendritic cells. CD40 is the receptor for CD40 ligand (CD40L), a molecule predominantly expressed by activated CD4(+) T cells. CD40/CD40L interaction induces the formation of memory B lymphocytes and promotes Ig isotype switching, as demonstrated in mice knocked-out for either CD40L or CD40 gene, and in patients with X-linked hyper IgM syndrome, a disease caused by CD40L/TNFSF5 gene mutations. In the present study, we have identified three patients with an autosomal recessive form of hyper IgM who fail to express CD40 on the cell surface. Sequence analysis of CD40 genomic DNA showed that one patient carried a homozygous silent mutation at the fifth base pair position of exon 5, involving an exonic splicing enhancer and leading to exon skipping and premature termination; the other two patients showed a homozygous point mutation in exon 3, resulting in a cysteine to arginine substitution. These findings show that mutations of the CD40 gene cause an autosomal recessive form of hyper IgM, which is immunologically and clinically undistinguishable from the X-linked form.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CD40Humanhyperimmunoglobulin syndrome  IAGP DNA:mutations:exons (human)RGD 
Cd40Rathyperimmunoglobulin syndrome  ISOCD40 (Homo sapiens)DNA:mutations:exons (human)RGD 
Cd40Mousehyperimmunoglobulin syndrome  ISOCD40 (Homo sapiens)DNA:mutations:exons (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cd40  (CD40 molecule)

Genes (Mus musculus)
Cd40  (CD40 antigen)

Genes (Homo sapiens)
CD40  (CD40 molecule)


Additional Information