hyper-IgM immunodeficiency syndrome type1; X-linked hyper IgM syndrome (HIGM1)

Pathology

• no lymphoid follicles

Genetics

• X-linked
• associated with defects in CD40L

Clinical manifestations

• affected males present at an early age (usually within the 1st year of life)
• recurrent bacterial infections & opportunistic infections, including Pneumocystis carinii pneumonia & intractable diarrhea due to cryptosporidium infection

Laboratory

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

Complications

• mortality 10% before adolescence

Management

• intravenous immunoglobulin

More general terms

• hyper-IgM immunodeficiency syndrome (HIGM)

Database

• OMIM: https://mirror.omim.org/entry/308230