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Related to Chediak-Higashi syndrome: Complement Deficiencies
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a) Abnormalities of adhesion (platelet vessel wall interaction/adhesion) VWD Bernard Soulier syndrome (abnormal or absent GP Ib) Abnormalities of platelet aggregation Congenital afibrinogenemia Glanzmann thrombasthenia (abnormal GP Ilb/IIIa) Disorders of platelet release/signal transduction Storage pool disease Deficient dense bodies Hermansky-Pudlak syndrome Chediak-Higashi syndrome Wiskott-Aldrich syndrome Thrombocytopenia with absent radii Deficient [alpha] granules Gray platelet syndrome Deficiency of [alpha] granules and dense bodies Signal transduction defects Abnormal AA pathways Impaired AA release Cyclooxygenase deficiency Thromboxane synthetase deficiency Abnormalities of platelet membrane response Scott syndrome (a) From Rao (2).
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.
However, the defect has also been observed in patients with other congenital abnormalities, including Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Wiskott-Aldrich syndrome, and the syndrome of thrombocytopenia with absent radius.