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Related to Chediak-Higashi syndrome: Complement Deficiencies
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Molecular analysis and clinical aspects of four patients with Chediak-Higashi syndrome (CHS).
Conclusion: Chediak-higashi syndrome is a rare primary immunodeficiency disorder with different clinical presentations.
The hematological findings of pancytopenia and hemophagocytosis suggest a possible deletion in the LYST gene in both of the presented cases, but ethnicity data and complete DNA analysis are needed to further substantiate the findings; nonetheless, both cases presented with the characteristic clinical and hematological profiles diagnostic of Chediak-Higashi syndrome.
Light microscopy of the hair shaft can show a pattern of melanin distribution virtually pathognomonic for Chediak-Higashi syndrome, in which small clumps of melanin are evenly distributed in contrast to the irregular spread of giant and small melanin clumps in Elejalde.
Molecular genetics of the Hermansky-Pudlak and Chediak-Higashi syndromes.
HLH may also occur as a complication of Chediak-Higashi syndrome (35) or after EBV infection in patients with X-linked lymphoproliferative syndrome (36).
Adult Chediak-Higashi syndrome presenting as parkinsonism and dementia.
For example, his work describing the Chediak-Higashi syndrome in animals provided an important clue in the study of a devastating genetic disorder in humans.
Hemophagocytic syndrome in children should be differentiated from familial HLH, which is characterized by early onset, a higher prevalence of parental consanguinity, and an association with immune deficiencies, such as Chediak-Higashi syndrome, Griscelli syndrome, and X-linked lymphoproliferative syndrome.