What is Hyper IgM Syndrome?

What is Hyper IgM Syndrome?

Summary. Hyper IgM syndromes are a group of rare disorders in which the immune system does not function properly. They are classified as rare primary immunodeficiency disorders, which are a group of disorders characterized by irregularities in the cell development and/or cell maturation process of the immune system.

What is happening in the genetic disorder known as Hyper IgM Syndrome?

Patients with HIGM syndrome have an inability to switch from the production of antibodies of the IgM type to antibodies of the IgG, IgA or IgE types. As a result, patients with this disease have decreased levels of IgG and IgA but normal or elevated levels of IgM in their blood.

What are the symptoms of high IgM levels?

In rare cases, your body may begin to produce too much IgM. When this happens, your blood will become thicker….Some common symptoms of this disease are:

• weakness.
• fatigue.
• loss of appetite.
• fever.
• sweats.
• weight loss.
• neuropathy.

What causes high IgM?

High levels of IgM can mean macroglobulinemia, early viral hepatitis, mononucleosis, rheumatoid arthritis, kidney damage (nephrotic syndrome), or a parasite infection is present.

Is Hyper IgM Syndrome hereditary?

Most cases (approximately 70%) of hyper-IgM syndrome are linked to a recessive mutation on the X chromosome . These cases are inherited as an X-linked recessive genetic trait. Because males do not have a second, healthy, X- chromosome to offset the disease, boys far out number girls with this disease.

How is Hyper IgM treated?

The most common treatment for HIGM is intravenous immunoglobulin (IVIG) therapy. Children receiving this treatment get regular infusions of donated blood plasma to prevent infections. In boys with XHIM, IVIG replaces missing IgG antibodies while normalizing levels of IgM.

How do you test Hyper IgM?

Diagnosis of Hyper-IgM Syndrome Serum Ig levels are measured; normal or elevated serum IgM levels and low levels or absence of other immunoglobulins support the diagnosis. Flow cytometry testing of CD40 ligand expression on T-cell surfaces should be done. When possible, the diagnosis is confirmed by genetic testing.

What is normal range for IgM?

Normal Ranges Adult: IgG 6.0 – 16.0g/L. IgA 0.8 – 3.0g/L. IgM 0.4 – 2.5g/L.

What does IgM mean in a blood test?

Immunoglobulin M (IgM): Found mainly in blood and lymph fluid, this is the first antibody the body makes when it fights a new infection. Immunoglobulin E (IgE): Normally found in small amounts in the blood.

Is CVID and autoimmune disease?

Immune cells can accumulate in other organs, forming small lumps called granulomas. Approximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body’s tissues and organs.

What are the signs of CVID?

Signs and symptoms of CVID include:

• Breathing problems.
• Chronic cough.
• Diarrhea that causes weight loss.
• Ear infections.
• Frequent sinus infections.
• Recurring lung infections, including pneumonia.

Which is the best description of hyper IgM syndrome?

Hyper IgM syndrome. Hyper IgM syndromes is a group of primary immune deficiency disorders characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation. Immunoglobulin (Ig) class switch recombination deficiencies are characterized by elevated serum Immunoglobulin M (IgM)…

Is there fungus in the lungs of hyper IgM patients?

The fungus is common and is present in over 70% of healthy people’s lungs, however, Hyper IgM patients are not able to fight it off without the administration of Bactrim) Different genetic defects cause HIgM syndrome, the vast majority are inherited as an X-linked recessive genetic trait and most sufferers are male.

What causes hyperimmunoglobulin E syndrome ( HIES )?

Abnormal neutrophil chemotaxis due to decreased production of interferon gamma by T lymphocytes is thought to cause the disease. Both autosomal dominant and recessive inheritance have been described: STAT3 may present as HIES with characteristic facial, dental, and skeletal abnormalities that has been called Job’s Syndrome.

Which is the best treatment for hyper IgE syndrome?

Good skin care is also important in patients with hyper IgE syndrome. High-dose intravenous gamma-globulin has also been suggested for the treatment of severe eczema in patients with HIES and atopic dermatitis.