Hyper IgM Syndrome / Disease

Diseases & Conditions

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Hyper IgM Syndrome

Synonyms of Hyper IgM Syndrome

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

Disorder Subdivisions

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.
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Organizations related to Hyper IgM Syndrome

American Academy of Allergy, Asthma and Immunology
611 East Wells Street
Milwaukee WI 53202
Phone #: 414-272-6071
800 #: 800-822-2762
e-mail: [email protected]
Home page: http://www.aaaai.org
American Autoimmune Related Diseases Association, Inc.
22100 Gratiot Avenue
Eastpointe MI 48021
Phone #: 586-776-3900
800 #: 800-598-4668
e-mail: [email protected]
Home page: http://www.aarda.org/
AutoImmunity Community
None
None None None
Phone #: (91-9) -552-9057
800 #: N/A
e-mail: [email protected]
Home page: http://autoimmunitycommunity.org
Center for International Blood and Marrow Transplant Research
Medical College of Wisconsin
Milwaukee WI 53226
Phone #: 414-456-8325
800 #: --
e-mail: [email protected]
Home page: http://www.ibmtr.org;
European Society for Immunodeficiencies (ESID)
c/o Dr. Esther de Vries
Hertogenbosch None 5200 ME's
Phone #: +31- 73--6992965
800 #: N/A
e-mail: [email protected]
Home page: http://www.esid.org
Immune Deficiency Foundation
40 West Chesapeake Avenue
Towson MD 21204
Phone #: 410-321-6647
800 #: 800-296-4433
e-mail: [email protected]
Home page: http://www.primaryimmune.org
International Patient Organization for Primary Immunodeficiencies
Firside
Cornwall None PL11 3LE
Phone #: 44 -150-3 250 668
800 #: --
e-mail: [email protected]
Home page: http://www.ipopi.org/
Jeffrey Modell Foundation
747 Third Ave
New York NY 10017
Phone #: 212-819-0200
800 #: 866-469-6474
e-mail: [email protected]
Home page: http://www.info4pi.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: [email protected]
Home page: http://www.netnet.net/mums/
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: [email protected]
Home page: http://www.madisonsfoundation.org
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: [email protected]
Home page: http://www.marchofdimes.com
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda MD 20892-3675
Phone #: 301-495-4484
800 #: 877-226-4267
e-mail: [email protected]
Home page: http://www.niams.nih.gov/Health_Info
NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda MD 20824-0105
Phone #: 301-592-8573
800 #: --
e-mail: [email protected]
Home page: N/A
National Bone Marrow Transplant Link
20411 W. 12 Mile Rd
Southfield MI 48076
Phone #: 248-358-1886
800 #: 800-546-5268
e-mail: [email protected]
Home page: http://www.nbmtlink.org
National Neutropenia Network
PO Box 1693
Brighton MI 48116
Phone #: 810-229-5797
800 #: N/A
e-mail: [email protected]
Home page: http://www.neutropenianet.org
Neutropenia Support Association, Inc.
971 Corydon Avenue
Manitoba None R3M 3S7
Phone #: 204-489-8454
800 #: 800-663-8876
e-mail: [email protected]
Home page: http://www.neutropenia.ca

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html