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Chediak Higashi Syndrome

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

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

  • No subdivisions found.

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.

Organizations related to Chediak Higashi Syndrome

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