hyper-IgM immunodeficiency syndrome type 2 (HIGM2)

Pathology

• absence of Ig class switch recombination
• lack of Ig somatic hypermutations
• lymph node hyperplasia caused by the presence of giant germinal center

Genetics

• autosomal recessive
• associated with defects in AICDA gene

Clinical manifestations

• profound susceptibility to bacterial infections

Laboratory

• normal or elevated serum IgM levels
• absence of serum IgG, serum IgA, & serum IgE

More general terms

• hyper-IgM immunodeficiency syndrome (HIGM)

Database

• OMIM: https://mirror.omim.org/entry/605258