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Copyright 1986, 1987, 1990, 1994, 1996, 2004, 2009
NORD is very grateful to Abdulaziz AlGhonaim, MBBS, MD, ABP, Section Head of Pediatric Allergy/ Immunology, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., for assistance in the preparation of this report.
Synonyms of Chediak Higashi Syndrome
- Begnez-Cesar's Syndrome
- Chediak-Steinbrinck-Higashi Syndrome
- CHS
- Leukocytic Anomaly Albinism
- Natural Killer Lymphocytes, Defect in
- Oculocutaneous Albinism, Chediak-Higashi Type
Disorder Subdivisions
General Discussion
Chediak-Higashi syndrome (CHS) is a rare, inherited, complex, immune disorder of childhood (usually) characterized by abnormally pale skin and eyes (oculocutaneous albinism). Because the patient’s white blood cells (leukocytes) are profoundly affected, especially in their capacity to transport cellular proteins, immune disorders are common, along with an increased susceptibility to infections. In addition, CHS patients tend to bruise and bleed easily. Neurological deficits are also common.
CHS is transmitted as an autosomal recessive trait.
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Organizations related to Chediak Higashi Syndrome
- European Society for Immunodeficiencies (ESID)
c/o Dr. Bodo Grimbacher (ESID Board Member)
Division of Rheumatology and Clinical Immunology
Department of Medicine, University Hospital Freiburg
Hugstetter Strasse 55
Freiburg None D-79106
Phone #: +31- 73--6992965
800 #: N/A
e-mail: info@esid.org
Home page: http://www.esid.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- International Patient Organization for Primary Immunodeficiencies
Firside
Main Road
Downderry
Cornwall None PL11 3LE
Phone #: 44 -150-3 250 668
800 #: --
e-mail: david@ipopi.org
Home page: http://www.ipopi.org/
- Jeffrey Modell Foundation
747 Third Avenue
34th Floor
New York NY 10017
Phone #: 212-819-0200
800 #: 866-469-6474
e-mail: info@jmfworld.org
Home page: http://www.info4pi.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Institute of Allergy and Infectious Diseases
6610 Rockledge Drive
MSC 6612
Bethesda MD 20892-6612
Phone #: 301-496-5717
800 #: --
e-mail: N/A
Home page: http://www.niaid.nih.gov/
- National Organization for Albinism and Hypopigmentation
PO Box 959
East Hempstead NH 03826-0959
Phone #: 603-887-2310
800 #: 800-473-2310
e-mail: info@albinism.org
Home page: http://www.albinism.org
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