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  • Title: Chediak-Higashi syndrome: report of a case with uncommon presentation and review literature.
    Author: Kanjanapongkul S.
    Journal: J Med Assoc Thai; 2006 Apr; 89(4):541-4. PubMed ID: 16696403.
    Abstract:
    Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive immunodeficiency disorder characterized by partial albinism, recurrent pyogenic infections, and large granules in all granule-containing cells. The author describes a Thai girl who was the first case of CHS in Thailand. She presented in the accelerated phase of CHS, which leads to repeated infections and bleeding, often resulting in fatal outcome. Pancytopenias, hepatosplenomegaly, lymphohistiocytic infiltration in bone marrow and the abnormal characteristic granules in leukocyte clinched the diagnosis.
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