Immunodeficiency with hyper IgM type 1
- X-linked hyper IgM syndrome
- Hyper IgM immunodeficiency, x-linked
- Hyper IgM syndrome
- Hyper IgM syndrome 1
Your QuestionMy son was recently diagnosed with hyper IgM syndrome. What information can you provide about this condition?
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Hyper IgM syndromes are characterized by normal or elevated serum immunoglobulin M levels with absence of immunoglobulin G, A, and E. Immunoglobulins are proteins found in the blood. Hyper IgM results in a susceptibility to bacterial infections and sometimes opportunistic infections. There are five different types of hyper IgM syndromes (types 1-5). The types are distinguished by the location of the gene mutation involved.
Other signs of the disease include enlarged tonsils, liver, and spleen, chronic diarrhea, and an increased risk of unusual or “opportunistic” infections and non-Hodgkins lymphoma. Opportunistic infections are infections caused by microorganisms that usually do not cause disease in individuals with fully functioning immune systems (non-immunocompromised) or widespread (systemic) overwhelming disease by microorganisms that typically cause only localized, mild infections. In individuals with Hyper-IgM Syndrome, such opportunistic infections may include those caused by Pneumocystis carinii, a microorganism that causes a form of pneumonia, or Cryptosporidium, a single-celled parasite (protozoa) that can cause infections of the intestinal tract.
In addition, individuals with Hyper-IgM Syndrome are prone to certain autoimmune disorders affecting particular elements of the blood. Autoimmune attacks on red blood cells lead to anemia, while autoimmune destruction of infection-fighting neutrophils further increases the risk of infection.
The range and severity of symptoms and physical features associated with this disorder may vary from case to case.
A small number of cases of hyper IgM syndrome have been attributed to autosomal recessive and autosomal dominant genetic inheritance. In addition, a rare acquired form of the disorder has been described in the medical literature.
Most children with hyper-IgM syndrome respond well to treatment, become symptom-free and resume normal growth.
The National Institute of Child Health and Human Development (NICHD) Clearinghouse. The NICHD provides information on primary immunodeficiency syndromes, including hyper IgM syndrome, and on other topics related to the health of children, adults, and families.
The National Institute of Child Health and Human Development Clearinghouse (NICHD)
PO Box 3006
Rockville, MD 20847
Toll free: 800-370-2943
In addition, many support organizatons for this condition offer patient friendly information. To view a list of these support organizations, go to the "Organizations" tab of this webpage.
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- Hyper IgM Immunodeficiency Syndrome. MeSH. http://www.nlm.nih.gov/cgi/mesh/2008/MB_cgi?mode=&index=24001&field=all&HM=&II=&PA=&form=&input=. Accessed 4/16/2008.
- Hyper IgM Immunodeficiency. Primary Immunodeficiency Resource Center. 2008; http://www.info4pi.org/aboutPI/index.cfm?section=aboutPI&content=syndromes&area=13&CFID=4740438&CFTOKEN=e428d93702237370-4B49B0F6-0023-0F1A-C289B29F1FE43C9A. Accessed 4/16/2008.
- Hyper IgM Syndrome. National Organization for Rare Disorders (NORD). 2002; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Hyper%20IgM%20Syndrome. Accessed 4/16/2008.
- Primary Immunodeficiency Diseases: Some Examples. National Institute of Child Health and Human Development (NICHD). April 7, 2008; http://www.nichd.nih.gov/publications/pubs/pages/primary_immuno.aspx. Accessed 4/16/2008.