Immunodeficiency with hyperimmunoglobulin M

Immunodeficiency with Hyperimmunoglobulin M

Immunodeficiency with Hyperimmunoglobulin M (pronounced as /ˌɪm.juː.noʊ.dɪˈfɪʃ.ən.si wɪθ ˌhaɪ.pɚˌɪm.juː.noʊˈglɒb.jʊ.lɪn ɛm/), also known as Hyper IgM Syndrome or HIGM, is a rare genetic disorder characterized by a deficiency in the immune system. The term derives from the Greek words "immuno" (meaning immunity), "hyper" (meaning over or excessive), and "globulin" (a type of protein), indicating an overproduction of a specific type of immunoglobulin, IgM.

Symptoms

Patients with Immunodeficiency with Hyperimmunoglobulin M often present with recurrent infections, particularly of the respiratory and gastrointestinal systems. Other symptoms may include neutropenia, anemia, and thrombocytopenia.

Causes

The condition is caused by mutations in several genes, including CD40 ligand (CD40L), Activation-induced cytidine deaminase (AID), and Uracil-DNA glycosylase (UNG). These mutations lead to a disruption in the normal immune response, resulting in an overproduction of IgM antibodies and a deficiency in other types of antibodies.

Diagnosis

Diagnosis of Immunodeficiency with Hyperimmunoglobulin M is typically made through blood tests that measure levels of different types of immunoglobulins. Genetic testing may also be used to identify the specific gene mutation causing the condition.

Treatment

Treatment for Immunodeficiency with Hyperimmunoglobulin M typically involves managing symptoms and preventing infections. This may include the use of antibiotics, immunoglobulin therapy, and in severe cases, hematopoietic stem cell transplantation.

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Immunodeficiency with hyperimmunoglobulin M