Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hyper-IgM syndrome 3

Hyper-IgM syndrome 3 is an autosomal recessive disorder caused by mutations of the CD40 gene. Patients are characterized by low levels of Immunoglobulin IgG, IgA, and IgE but elevated IgM. This immunoglobulin abnormality is accompanied by susceptibility to infections.


Hyper-IgM syndrome
Hyper-IgM syndrome 1
Hyper-IgM syndrome 2
Hyper-IgM syndrome 3
Hyper-IgM syndrome 4
Hyper-IgM syndrome 5



Castigli E et. al. (1994) CD40-deficient mice generated by recombination-activating gene-2-deficient blastocyst complementation.


Kawabe T et. al. (1994) The immune responses in CD40-deficient mice: impaired immunoglobulin class switching and germinal center formation.


Ferrari S et. al. (2001) Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.


Kutukculer N et. al. (2003) Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency.


Mazzolari E et. al. (2007) First report of successful stem cell transplantation in a child with CD40 deficiency.


Revy P et. al. (1998) Normal CD40-mediated activation of monocytes and dendritic cells from patients with hyper-IgM syndrome due to a CD40 pathway defect in B cells.


Kutukculer N et. al. (2003) Outcome of hematopoietic stem cell transplantation in hyper-IgM syndrome caused by CD40 deficiency.

Update: Sept. 26, 2018