Hyper-IgM syndrome type 1
Hyper-IgM syndrome type 1 (pronounced: hi-per eye-gee-em sin-drome type one) is a rare genetic disorder that affects the immune system. It is also known as HIGM1 or CD40 ligand deficiency.
Etymology
The term "Hyper-IgM syndrome type 1" is derived from the medical condition it describes. "Hyper" is a prefix from Greek origin meaning 'over' or 'excessive', "IgM" stands for Immunoglobulin M, a type of antibody, and "syndrome" is a collection of symptoms that are associated with a particular disease. "Type 1" indicates that it is the first subtype of the disease.
Definition
Hyper-IgM syndrome type 1 is a condition that affects the immune system. It is characterized by an abnormally low level of certain types of antibodies (immunoglobulins) in the body, leading to a higher susceptibility to infections.
Symptoms
The symptoms of Hyper-IgM syndrome type 1 can vary, but they often include frequent infections, especially of the respiratory system, and an increased risk of autoimmune disorders. Other symptoms may include neutropenia, hepatitis, and encephalitis.
Causes
Hyper-IgM syndrome type 1 is caused by mutations in the CD40LG gene. This gene provides instructions for making a protein called CD40 ligand, which is essential for the activation of the immune response.
Diagnosis
Diagnosis of Hyper-IgM syndrome type 1 is typically made through a combination of clinical examination, patient history, and laboratory tests, including genetic testing to identify mutations in the CD40LG gene.
Treatment
Treatment for Hyper-IgM syndrome type 1 typically involves managing symptoms and preventing infections. This can include the use of antibiotics, immunoglobulin therapy, and in some cases, hematopoietic stem cell transplantation.
See also
External links
- Medical encyclopedia article on Hyper-IgM syndrome type 1
- Wikipedia's article - Hyper-IgM syndrome type 1
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