Most children with HIGM syndrome will develop symptoms within the first or second year of life. The most common problem is an increased risk of infection, including repeated upper and lower respiratory tract infections. Most infections
are bacterial, but they can also be viral or fungal. Some patients also experience gastrointestinal issues including diarrhea and difficulty absorbing nutrients from food (malabsorption).
Patients with XHIGM syndrome may develop an opportunistic form of pneumonia, or a gastrointestinal infection that can cause severe liver disease. About half of patients with XHIGM develop a low white blood cell count (neutropenia),
which is associated with mouth ulcers, inflammation or ulceration of the rectum, and skin infections.
Patients with autosomal recessive HIGM are more likely to experience enlargement of the lymph nodes and the spleen. As a result, these people often have enlarged tonsils and adenoids that may cause snoring and obstructive sleep
apnea. Autoimmune diseases, where a person's immune system attacks the body, may also occur in patients with HIGM.
Diagnosis of HIGM Syndrome
HIGM syndrome is suspected in a patient presenting with severe recurrent respiratory infections or an opportunistic infection when blood tests show a normal or elevated level of IgM and low or absent IgG. Final diagnosis is based
on an analysis of the person's DNA to identify mutations in genes known to cause HIGM syndrome.
Treating HIGM Syndrome
Only your doctor can determine which treatment is right for you and your specific health needs. Visit our Treating PI section to read about the types of PI treatment and download questions to ask your