Hyper IgM Syndrome
You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.
Synonyms of Hyper IgM Syndrome
- Dysgammaglobulinemia Type I
- Immunodeficiency with Increased IgM
- No subdivisions found.
Hyper-IgM Syndrome (HIM) is a rare genetic (primary) immunodeficiency disorder that is typically inherited as an X-linked recessive genetic trait. Symptoms and physical findings associated with the disorder usually become apparent in the first or second year of life. Hyper-IgM Syndrome may be characterized by recurrent pus-producing (pyogenic) bacterial infections of the upper and lower respiratory tract including the sinuses (sinusitis) and/or the lungs (pneumonitis or pneumonia); the middle ear (otitis media); the membrane that lines the eyelids and the white portions (sclera) of the eyes (conjunctivitis); the skin (pyoderma); and/or, in some cases, other areas. Individuals with Hyper-IgM Syndrome are also susceptible to "opportunistic" infections, i.e., 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, such as neutropenia, a condition in which there is an abnormal decrease of certain white blood cells (neutrophils). Additional physical findings often associated with the disorder may include enlargement (hypertrophy) of the tonsils, enlargement of the liver and spleen (hepatosplenomegaly), chronic diarrhea and impaired absorption of nutrients by the intestinal tract (malabsorption), and/or other symptoms.
The range and severity of symptoms and physical features associated with this disorder may vary from case to case. Because approximately 70 percent of reported cases of Hyper-IgM Syndrome are inherited as an X-linked recessive genetic trait, the vast majority of affected individuals are male. However, some cases of autosomal recessive and autosomal dominant genetic inheritance have been reported. In addition, a rare acquired form of the disorder has been described in the medical literature.
Organizations related to Hyper IgM Syndrome
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., immune deficiency, autoimmune disorders affecting certain elements of the blood, etc.].)
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
Copyright 1997, 1998, 2002
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.