Chédiak-Higashi syndrome 2476442 218594255 2008-06-11T10:05:25Z SmackBot 433328 Date the maintenance tags or general fixes {{Infobox_Disease | Name = Chédiak-Higashi syndrome | Image = | Caption = | DiseasesDB = 2351 | ICD10 = {{ICD10|E|70|3|e|70}} (E70.340 [[ILDS]]) | ICD9 = {{ICD9|288.2 }} | ICDO = | OMIM = 214500 | MedlinePlus = | eMedicineSubj = derm | eMedicineTopic = 704 | MeshID = D002609 | }} '''Chédiak-Higashi syndrome''' is a rare [[autosomal recessive]] disorder that affects multiple systems of the body, and arises from a [[mutation]] in the [[lysosomal trafficking regulator]] gene, [[LYST]]. It occurs in humans, [[cattle]], [[white tigers]], blue [[Persian cat]]s and [[orcas]]{{Fact|date=June 2008}}. ==Eponym== It is named for [[Alexander Chédiak]] and [[Otokata Higashi]].<ref>{{WhoNamedIt|synd|1745}}</ref><ref>M. Chédiak. Nouvelle anomalie leucocytaire de caractère constitutionel et familial. Revue d'hématologie, Paris, 1952, 7:362-367. </ref><ref>O. Higashi. Congenital gigantism of peroxidase granules. The first case ever reported of qualitative abnormality of proxidase. Tohoku Journal of Experimental Medicine, Sendai, 1953-1954, 59: 315-332.</ref> ==Presentation== It is a disease with impaired [[bacteriolysis]]<ref name="titleCh�diak-Higashi Syndrome: Immunodeficiency Disorders: Merck Manual Professional">{{cite web |url=http://www.merck.com/mmpe/sec13/ch164/ch164d.html |title=Ch�diak-Higashi Syndrome: Immunodeficiency Disorders: Merck Manual Professional |accessdate=2008-03-01 |format= |work=}}</ref> due to failure of [[phagolysosome]] formation. As a result of disordered intracellular trafficking there is impaired [[lysosome]] [[degranulation]] with [[phagosomes]], so phagocytosed [[bacteria]] are not destroyed by the [[lysosome]]'s [[enzymes]]. In addition, secretion of [[lytic secretory granules]] by [[cytotoxic T cells]] is also affected. The disease is characterised by large lysosome [[vesicles]] in [[phagocytes]] (neutrophils), which thus have poor [[bactericidal]] function, leading to susceptibility to infections, abnormalities in nuclear structure of leukocytes, [[anemia]], and [[hepatomegaly]]. ==Clinical findings== There are several manifestations of Chédiak-Hegashi syndrome as mentioned above; however, [[neutropenia]] seems to be the most common. The syndrome is also associated with [[Albinism|oculocutaneous albinism]]. Persons are also prone for infections, especially with ''Staphylococcus aureus''. Associated features: Abnormalities in melanocytes (albinism), nerve defects, bleeding disorders. ==See also== * [[Griscelli syndrome]] (also known as "Chediak-Higashi like syndrome") ==References== {{reflist}} {{Immune disorders}} {{DEFAULTSORT:Chediak-Higashi syndrome}} [[Category:Pediatrics]] [[Category:Dermatology]] [[Category:Rare diseases]] [[Category:Genetic disorders]] [[Category:Autosomal recessive disorders]] [[Category:Syndromes]] [[Category:Albinism]] {{disease-stub}} {{genetics-stub}} [[de:Chediak-Higashi-Syndrom]] [[fr:Syndrome de Chediak Higashi]] [[ja:チェディアック・東症候群]] [[pl:Zespół Chediaka-Higashiego]]