Hyper IgM syndrome
Hyper IgM syndrome (pronounced: /ˈhaɪpər aɪ dʒi ɛm ˈsɪndroʊm/) is a rare genetic disorder that primarily affects the immune system. The term "Hyper IgM syndrome" is derived from the medical condition's characteristic high levels of an antibody called immunoglobulin M (IgM) in the blood.
Overview
Hyper IgM syndrome is a condition that affects the body's ability to fight off infections. This is due to a mutation in the CD40 ligand gene, which is responsible for the production of a protein that plays a crucial role in the immune response. This mutation leads to an overproduction of IgM, while other types of immunoglobulins (IgG, IgA, and IgE) are underproduced or not produced at all. As a result, individuals with Hyper IgM syndrome are more susceptible to recurrent infections, particularly those caused by bacteria, parasites, and fungi.
Symptoms
The symptoms of Hyper IgM syndrome typically become apparent in infancy or early childhood. They may include recurrent pneumonia, sinusitis, and ear infections, as well as an increased susceptibility to opportunistic infections such as Pneumocystis jirovecii pneumonia (PJP). Other potential symptoms include neutropenia (a low number of neutrophils, a type of white blood cell), anemia, and thrombocytopenia (a low number of platelets).
Diagnosis
Diagnosis of Hyper IgM syndrome is typically made through a combination of clinical findings, laboratory tests, and genetic testing. Laboratory tests may reveal high levels of IgM and low levels of other immunoglobulins. Genetic testing can confirm the presence of a mutation in the CD40 ligand gene.
Treatment
Treatment for Hyper IgM syndrome is primarily focused on managing symptoms and preventing infections. This may include the use of antibiotics, antifungal medications, and immunoglobulin replacement therapy. In severe cases, a hematopoietic stem cell transplant may be considered.
See also
External links
- Medical encyclopedia article on Hyper IgM syndrome
- Wikipedia's article - Hyper IgM syndrome
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