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Therehavebeenaroundcasesreported,andgiantcytoplasmicgranulesarepathognomonicChediak-Higashisyndromeisadisordercausedbyamutationinthe LYSTgeneandcharacterizedbyimmunodeficiency,oculocutaneousalbinism,andneurologicaldysfunctionresultingfromchangesinneutrophils.Thebloodsmear showedgiantlysosomesinthewhitebloodcells(figure)andwediagnosedChediak-Higashisyndrome,arareautosomalrecessivedisease(geneChédiak-Higashi syndromeisarare,autosomalrecessiveimmunodeficiencydisordercharacterizedbyimpairedlysisofphagocytizedbacteria,resultinginrecurrentbacterial ABSTRACTHomozygotesdieinthefirstadeoflifeTheaffectedsubjectshavelight-coloredCHSisarareautosomalrecessivedisorder,whichiscausedby biallelicmutationsinthehighlyResultMostpeoplewithChediak-Higashisyndromehaverepeatedandpersistentinfectionsstartingininfancyorearlychildhood, whichtendtobeveryseriousorlifethreateningChediak-HigashisyndromeisadisordercausedbyamutationintheLYSTgeneandcharacterizedby immunodeficiency,oculocutaneousalbinism,and9, PDF.MostpeoplewithChediak-Higashisyndromehaverepeatedandpersistentinfectionsstartingininfancy orearlychildhood,whichtendtobeveryseriousResultThetechnicoffreeze-fractureandetchinghasbeenusedinthepresentstudytoexaminethefinestructure ofgiantinclusionsincirculatingleukocytesfromapatientwiththeChediak-Higashisyndrome(CHS)Thesurfacegranularityofthemembranesenclosingthegiant inclusionsdifferedslightlyfromthatofnormalResultChédiak-Higashisyndrome(CHS)isararedisorderofimmunedeficiencywithautosomalrecessive inheritanceChediak-Higashisyndromeisaconditionthataffectsmanypartsofthebody,particularlytheimmunesystemThemeanageofonsetis5–6yearsThe studyisaliteraturereviewfromdiferentsourcesChédiak-Higashisyndromeisarareautosomalrecessivecongenitalimmunodeficiencymainlycharacterizedbya conditioncalledoculo-cutaneousalbinismDeathoftenoccursbeforetheageofyearsbecauseoftheso-calledacceleratedphase,withhepatosplenomegaly
ABSTRACT.ThisdiseasedamagesimmunesystemChediak-Higashisyndrome(CHS)ischaracterizedbypartialoculocutaneousalbinism(OCA), immunodeficiency,amildbleedingtendency,andlateadolescenttoadult-onsetneurologicmanifestations(eg,learningdifficulties,peripheralneuropathy,ataxia, andparkinsonism)Chediak-HigashiSyndromeisapathologycausedbyamutationintheLYSTgene,characterizedbyimmunodeficiency,oculocutaneous albinism,andneurologicaldysfunctionresultingfromneutrophil(figure)andwediagnosedChediak-Higashisyndrome,arareautosomalrecessivedisease(gene CHS1/LYSTat1q)Overthepastyears,∼caseswerepublishedworldwideWereporthereacaseofCHSinaboyaged2½yearswhopresentedtouswith pneumoniawhichturnedtobeResultSincetheinitialdescriptionofChediak-Higashisyndrome(CHS),overyearsago,severalstudieshavebeenconductedto underscoretheroleofthelysosomaltraffickingregulator(LYST)geneinthepathogenesisofdisease