Diseases & Conditions


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.

    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
      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
      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