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Hyper IgM Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Hyper IgM Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Dysgammaglobulinemia Type I
  • IHIS
  • IMD3
  • Immunodeficiency with Increased IgM
  • Immunodeficiency-3
  • HIM

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.

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



American Autoimmune Related Diseases Association, Inc.

22100 Gratiot Ave.

Eastpointe, MI 48021

Tel: (586)776-3900

Fax: (586)776-3903

Tel: (800)598-4668

Email: aarda@aarda.org

Internet: http://www.aarda.org/



Immune Deficiency Foundation

40 W. Chesapeake Avenue

Suite 308

Towson, MD 21204

Tel: (410)321-6647

Fax: (410)321-9165

Tel: (800)296-4433

Email: idf@primaryimmune.org

Internet: http://www.primaryimmune.org



National Neutropenia Network

P.O. Box 1693

Brighton, MI 48116

USA

Tel: (517)294-0736

Email: leereeves99@gmail.com

Internet: http://www.neutropenianet.org



NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

TDD: (301)565-2966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov/



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

Internet: http://www.nhlbi.nih.gov/



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

Internet: http://www.cibmtr.org/



Neutropenia Support Association, Inc.

971 Corydon Avenue

P.O. Box 243

Winnepeg

Manitoba, R3M 3S7

Canada

Tel: 2044898454

Tel: 8006638876

Email: stevensl@neutropenia.ca

Internet: http://www.neutropenia.ca



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

Internet: http://www.aaaai.org



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

Internet: http://www.nbmtlink.org



International Patient Organization for Primary Immunodeficiencies

Firside Main Road

Downderry

Cornwall, PL11 3LE

United Kingdom

Tel: 441503250668

Fax: 441503250961

Email: info@ipopi.org

Internet: http://www.ipopi.org/



Jeffrey Modell Foundation

780 Third Avenue

New York, NY 10017

USA

Tel: (212)819-0200

Fax: (212)764-4180

Tel: (866)469-6474

Email: info@jmfworld.org

Internet: http://www.info4pi.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

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



European Society for Immunodeficiencies

1-3 rue de Chantepoulet

Geneva, CH 1211

Switzerland

Tel: 410229080484

Fax: 41229069140

Email: esid@kenes.com

Internet: http://www.esid.org



AutoImmunity Community

Email: moderator@autoimmunitycommunity.org

Internet: http://www.autoimmunitycommunity.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  4/16/2008

Copyright  1997, 1998, 2002 National Organization for Rare Disorders, Inc.

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