Hyper IgM Syndrome synonyms

Hyper IgM Syndrome, also known as HIGM, is a rare genetic disorder that affects the immune system. It is characterized by a deficiency in the production of immunoglobulin (Ig) class-switching, specifically IgG, IgA, and IgE, while maintaining normal or elevated levels of IgM. This condition is caused by mutations in genes involved in the class-switching process, such as CD40 ligand (CD40L) or activation-induced cytidine deaminase (AID).

Individuals with Hyper IgM Syndrome have impaired ability to fight off infections due to the lack of specific antibodies that are crucial for immune response. As a result, they are more susceptible to recurrent and severe bacterial, viral, and fungal infections, particularly in the respiratory and gastrointestinal tracts. Common infections include pneumonia, sinusitis, otitis media, and diarrhea. Additionally, affected individuals may experience poor growth, chronic diarrhea, and liver disease.

There are several subtypes of Hyper IgM Syndrome, each associated with different genetic mutations and varying clinical presentations. These subtypes include Hyper IgM Syndrome type 1 (caused by CD40L mutations), type 2 (caused by AID mutations), type 3 (caused by CD40 mutations), type 4 (caused by uracil-DNA glycosylase (UNG) mutations), and type 5 (caused by nuclear factor kappa B essential modulator (NEMO) mutations).

Diagnosis of Hyper IgM Syndrome involves a combination of clinical evaluation, immunological testing, and genetic analysis. Treatment options aim to manage infections and boost the immune system. This may involve prophylactic antibiotics, immunoglobulin replacement therapy, antiviral medications, and stem cell transplantation in severe cases. Regular monitoring and follow-up care are essential to prevent complications and optimize the quality of life for individuals with Hyper IgM Syndrome.