hyper-IgM immunodeficiency syndrome type 3 (HIGM3)

Pathology

• absence of Ig class switch recombination at a DNA precleavage step
• inability to mount an antibody-specific immune response
• lack of germinal center formation
• macrophages may be defective

Genetics

• autosomal recessive
• associated with defects in CD40

Clinical manifestations

• susceptibility to bacterial infections & opportunistic infections

More general terms

• hyper-IgM immunodeficiency syndrome (HIGM)

Database

• OMIM: https://mirror.omim.org/entry/606843