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Children present with partial albinism, partial lack of hair, skin and eye color and recurrent infections of the skin, mouth and respiratory tract. Patients present a deficient natural killer cell activity, susceptibility to malignant lymphoma, and the presence of large intracytoplasmic granulations in various cell types. The symptoms are so severe that most people with Chediak-Higashi syndrome die at an early age (before 7 years).
Diagnosis
Diagnostic recommendations
Additional Information
Diagnostic laboratories
Clinical:
Genetic:
Therapeutic options
- Bone marrow transplantation has been curative.
- Chediak-Higashi syndrome, eMedicine, USA
Research programs, clinical trials
- Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies, Clinical.Trials.gov
- Study of Chediak-Higashi Syndrome, Clinical.Trials.gov
- Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders, Clinical.Trials.gov
- Learning and Behavior Problems in Children with Chronic Granulomatous Disease and Related Disorders, Clinical.Trials.gov
- Detection and Characterization of Host Defense Defects, Clinical.Trials.gov