Hyper IgM Syndrome

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Hyper IgM Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

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.

Supporting Organizations

American Academy of Allergy, Asthma and Immunology

611 East Wells Street
Milwaukee, WI 53202
Tel: (414)272-6071
Fax: (414)276-3349
Tel: (800)822-2762
Email: info@aaaai.org
Website: http://www.aaaai.org

American Autoimmune & Related Diseases

22100 Gratiot Ave.
Eastpointe, MI 48021
Tel: (586)776-3900
Fax: (586)776-3903
Tel: (800)598-4668
Email: aarda@aarda.org
Website: http://www.aarda.org/

AutoImmunity Community

Website: https://www.facebook.com/autoimmunityforum

Center for International Blood and Marrow Transplant Research

Froedtert and the Medical College of Wisconsin Clinical Cancer Center
9200 W. Wisconsin Avenue
Milwaukee, WI 53226
Tel: (414)805-0700
Fax: (414)805-0714
Email: contactus@cibmtr.org
Website: http://www.cibmtr.org/

European Society for Immunodeficiencies

1-3 rue de Chantepoulet
Geneva, CH 1211
Tel: 410229080484
Fax: 41229069140
Email: esid@kenes.com
Website: http://www.esid.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

Immune Deficiency Foundation

110 West Road
Suite 300
Towson, MD 21204
Tel: (410)321-6647
Fax: (410)321-9165
Tel: (800)296-4433
Email: idf@primaryimmune.org
Website: http://www.primaryimmune.org

International Patient Organization for Primary Immunodeficiencies

Firside Main Road
Cornwall, PL11 3LE
United Kingdom
Tel: 441503250668
Fax: 441503250961
Email: info@ipopi.org
Website: http://www.ipopi.org/

Jeffrey Modell Foundation

780 Third Avenue
New York, NY 10017
Tel: (212)819-0200
Fax: (212)764-4180
Tel: (866)469-6474
Email: info@jmfworld.org
Website: http://www.info4pi.org

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: AskUs@marchofdimes.org or preguntas@nacersano.org
Website: http://www.marchofdimes.org and nacersano.org

NIH/National Heart, Lung and Blood Institute

P.O. Box 30105
Bethesda, MD 20892-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov
Website: http://www.nhlbi.nih.gov/

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
Email: NIAMSinfo@mail.nih.gov
Website: http://www.niams.nih.gov/

National Bone Marrow Transplant Link

20411 W. 12 Mile Rd
Suite 108
Southfield, MI 48076
Tel: (248)358-1886
Fax: (248)358-1889
Tel: (800)546-5268
Email: info@nbmtlink.org
Website: http://www.nbmtlink.org

National Neutropenia Network

P.O. Box 1693
Brighton, MI 48116
Tel: (517)294-0736
Email: leereeves99@gmail.com
Website: http://www.neutropenianet.org

Neutropenia Support Association, Inc.

971 Corydon Avenue
P.O. Box 243
Manitoba, R3M 3S7
Tel: 2044898454
Tel: 8006638876
Email: stevensl@neutropenia.ca
Website: http://www.neutropenia.ca

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  4/16/2008
Copyright  2002 National Organization for Rare Disorders, Inc.