Spotlight On

Hyper IgM Syndrome

Hyper IgM syndrome is a type of primary immunodeficiency syndrome. Primary immunodeficiency occurs when part of a person’s immune system is missing or does not work correctly

Prevalence

1/1,000,000

330

US Estimated

670

Europe Estimated

Age of Onset

ICD-10

D80.5

Inheritance

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

5 Facts you should know

FACT

Hyper-Immunoglobulin M (Hyper-IgM) Syndromes are a group of rare primary immunodeficiency disorders characterized by a defect in class-switching of immunoglobulins, particularly a deficiency in IgG, IgA, and IgE while having elevated levels of IgM

FACT

There are several types of Hyper-IgM Syndromes, including X-linked Hyper-IgM syndrome (XHIGM), caused by mutations in genes like CD40L, and autosomal recessive or autosomal dominant forms caused by mutations in other genes involved in the immunoglobulin class-switching process

FACT

Common symptoms include increased susceptibility to bacterial, viral, and fungal infections, particularly respiratory and gastrointestinal infections. Patients may also have low levels of other immunoglobulins, leading to recurrent infections

FACT

Diagnosis involves clinical evaluation, measuring immunoglobulin levels (especially IgM), specific antibody levels, and genetic testing to identify mutations in genes associated with Hyper-IgM Syndromes

FACT

Management focuses on preventing infections through immunoglobulin replacement therapy, prophylactic antibiotics, and sometimes bone marrow transplantation in severe cases

Interest over time

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