ipex syndrome

immunodisregulation polyendocrinopathy enteropathy ex-linked syndrome (ipex syndrome) anedi arudaina swayam pratirakshaka vyaadhi. idhi swayam pratirakshaka polyndocrine syndromelalo okati. chaalaa tarachugaa, ipex auto emmune enteropathy, dermatitis (taamara) mariyu auto emmune endocrinopathy (chaalaa tarachugaa type 1 diabetes) thoo untundi, conny itara pradarsanalu unnaayi.
ipex anedi anedi janyuvulooni utparivartanala valla sambhavistundi, idhi transcription phyaaktar forkhead baaks baaks pii3 nuu encode chestundi. mariyu anedi niyantrana tii sell (tii) vamsaaniki pradhana niyantrikagaa vistrutamgaa pariganinchabadutundi. mariyu mutation anedi autoractive + tii panicheyakapovadaaniki daariteestundi. aarogyakaramaina vyaktulalo, roganirodhaka homeostasisnu nirvahinchandi. mariyu mutation unnappudu, sarigga panicheyadu mariyu swayam pratirakshakatvaanni kaligistundi.
ipex prarambham saadhaaranamgaa baalyamlone jarugutundi. chikitsa cheyakunda vadilesthe, idhi 2 ledhaa 3 samvatsaraala vayassulopu tarachugaa praanaantakam avutundi. emuka majja marpidi saadhaaranamgaa uttama chikitsa empikagaa pariganinchabadutundi.
pradarsana.
shaastreeya trayam.
classical tride ipex yokka atyanta saadhaarana lakshanaalanu vivaristundihi nayam cheyaleni atisaaram, type 1 diabetes mariyu taamara. lakshanaalu saadhaaranamgaa puttina ventane praarambhamavutaayi.
itara lakshanaalu thyroid vyaadhi, moothrapindaala panicheyakapovadam, rakta rugmatalu, tarachugaa sankraminche antuvyaadhulu, swayam pratirakshaka haemolitic raktaheenata mariyu aahara alerjeelu, itarulalo unnaayi.
endocrinopathy.
ipexto sambandham unna atyanta saadhaarana endocrinopathy rakam 1 madhumeham, mukhyamgaa navjata madhumeham. eee rakamaina madhumehamlo, roganirodhaka vyavastha insulin utpatti chese kanaalapai daadi chestundi. deenivalla clomum insulin utpatti cheyalekapoyindi. madhumeham klomamnu saasvatamgaa debbateestundi.
thyroid rugmatalu kooda sarvasaadhaaranam.
entropathy.
ipexto sambandham unna atyanta saadhaarana enteropathy anedi nayam cheyaleni atisaaram. vaantulu mariyu pottalo vaapu kooda sarvasaadhaaranam. itara vyakteekaranalalo udarakuhara vyaadhi, vranotpatti peddapregu shotha mariyu ilius unnaayi.
charma lakshanaalu.
charmapu prameyam yokka atyanta saadhaarana roopam dermatitis. idhi moodu roopaallo sambhavinchavachhuh eximatiform (pradhanamgaa autopic dermatitis), ichthiosiform, soriasaform ledhaa kalayika. itara charma vyakteekaranalalo cheelitis, onicodistrophy mariyu alopesia undavacchu.
prarambha jeevitam.
ipex rogulu saadhaaranamgaa saadhaarana baruvu mariyu vyavadhilo podavutho janmistaaru. ayinappatikee, modati lakshanaalu jeevitam yokka modati rojullo kanipinchavacchu, mariyu konni nivedinchabadina kesulu navjata sisuvulanu garbhasaya perugudala parimiti mariyu amneotic dravam loe meconium yokka aadhaaraalatho label cheyabaddaayi.
janyusaastram.
mariyu janyuvu.
ipex syndrome anedi mariyu janyuvu dwara ex-linked tirogamana namoonaalo purushulalo vaarasatvamgaa vastundi. mariyu yokka cytogenetic sthaanam xp11.23. mariyu janyuvulo 12 exanlu untaayi mariyu daani puurti patanam open frame 431 amaino aamlaalanu encode chestundi. mariyu anedi transcription kaarakaala yokka efhetch kutumbamlo sabhyudu mariyu protein-protein paraspara charyalaku mukhyamaina prolin-ritch (prr) amaino-terminal domine, central jink finger (jdf) mariyu lucine zipper (elged) domainlanu kaligi undhi. idhi nuclear localization mariyu dna-binding kaaryakalaapaalaku avasaramaina carboxyl-terminal efhetch domaine kooda kaligi undhi. maanavulalo, exanlu 2 mariyu 7 nuu splis chesi protein nundi minahaayinchavacchu.
mariyu utparivartanalu.
oke muula pratyaamnaayaalu, tolagimpulu mariyu spliesing utparivartanaalato sahaa aneka rakaala utparivartanaalu kanugonabaddayi. 2018 nundi dayta ipex syndromeku daariteese mariyu janyuvulo 70 kii paiga utparivartanalanu vivaristundi. gatha dasaabdamloo eee sankhya gananeeyamgaa perigindi. perigindi saahityamlo mariyu yokka 20 utparivartanalu matrame telisinavi. konni utparivartanalu mariyu vyakteekarananu panicheyakapovadaaniki kaaranamavutaayi, idhi tii utpattilo lopaniki daariteestundi. aaa vyaktulaku prasarana CD4 +/CD25 +/CD25 + tii kanaalu laevu. mariyu yokka taggina vyakteekarana vivarinchabadindi, mariyu eee vyaktulu panicheyani protein yokka saadhaarana sthaayilanu vyaktam cheyavachu, idhi navjata kaalamlo ledhaa jeevitamlo taruvaati kaalamlo telikapati lakshanaalaku daariteestundi. itara vyaktulu mariyu proteinnu vyaktam cheyaru. mariyu yokka utparivartanaku oka saadhaarana sthaanam, idhi panicheyakapovadam protein yokka vyakteekaranaku daariteestundi, idhi fork head domine anie piluvabade dna-binding domine. mutation valla kattirinchina protein daani dna binding saitku bandhinchalekapoyindi. idhi abhivruddhi mariyu paniteeruku sambandhinchi daani paniteerunu balaheenaparustundi. tii lekapovadam ledhaa panicheyakapovadam swayam pratirakshaka lakshanaalaku kaaranamavutundi.
mariyu margalu.
mariyu itara proteinlatho daani paraspara charyalanu batti tregg kanaala yokka repressor mariyu trans-activator rendintigaa panichestundi. mariyu vyakteekarana anedi transcription niyantrinchadam, epigenetic maarpulanu mariyu post-transcriptional maarpulanu prabhaavitam cheyadam dwara vargeekarinchabadutundi. mariyu yokka enn-terminal repressor domine tregg kanaala transcription ledhaa epigenetic niyantrananu maarchagaladu. enn-terminal domine mariyu eos madhya paraspara charyala dwara transcriptional activity maarchabadutundi-idhi maarchabadutundi-idhi thoo anubandhistundi mariyu corpressor complexenu yerparustundi. eee samudaayam "il2" promoternu bandhistundi mariyu tregg kanaalalo "il2" transcription anachiveyadaaniki మరియునii anumatistundi. mariyu histone dactylase (hcdc) 7, 7, mariyu histone acetyl transferes transferes thoo sanklishtatalanu yerparustundi, idhi tregg kanaala epigenetic kaaryaacharananu maarustundi. mariyu yokka enn-terminal domine kooda transcription kaarakaalanu rorg mariyu rorelanu vyatirekinchagaladu, tadwara th17 kana bhedaanni nirodhistundi. mariyu diguva transcription kaarakaala dwara tcr signalingtho mudipadi untundi. eee parisoedhanalannee transcriptional activity mariyu tregg kanaalalo anachiveta niyantranalo mariyu yokka praamukhyatanu dhruveekaristaayi.
rooga nirdhaarana.
vyaadhini mundugaane gurtinchadam chaalaa mukhyam endukante chikitsa cheyakunda vadilesthe ipex adhika maranaala sthaayini kaligi untundi. ipex saadhaaranamgaa eee krindi pramaanaala aadhaaramgaa nirdhaarana cheyabadutundihi
chikitsa.
ipex unna vyaktulaku saadhaaranamgaa aasupatrilo sahayaka samrakshana avasaram. atyanta saadhaaranamainadi enteropathy kosam poeshaka chikitsa mariyu enteropathy kosam insulin chikitsa. ipex chikitsa lakshanaalanu nirvahinchadam, swayam pratirakshaka saktini tagginchadam mariyu/ledhaa dviteeya paristhitulaku chikitsa cheyadampai drushti pedutundi. saadhaaranamgaa, chikitsalo roganirodhaka saktini anachiveyadam untundi.
upayoginche mandulu
prastutam, ipex kuu praamaanika chikitsa emuka majja marpidi. daata-graheeta chimerism saadhinchinatlayithe, ipex unna vyaktulu puurti upasamanaanni saadhinchavachchu.
parisoedhana.
parisoedhana, pavel mariyu itarulu. polyendocrinopathy mariyu virechanaalato sahaa lakshanaalatoo ex-linked syndrome dwara prabhaavitamaina 19 mandhi purushulatho kuudina kutumbam yokka kesu nivedikanu prachurinchindi. eee kutumbamlo atyanta saadhaarana lakshanaalu teevramaina enteropathy, enteropathy mariyu dermatitis. kutumbamloni 19 mandhi baadhita purushulalo iddaru matrame 3 samvatsaraala vayassu daati batiki unnaaru. eee vyaktulu 10,30 samvatsaraala vayassu varaku jeevinchaaru. pavel adhyayanam ippudu ipex yokka modati documentationga vistrutamgaa pariganinchabadutundi.
"scurfy" mouse.
"scurfy" anedi roganirodhaka shaastra parisoedhana kosam upayoginche oka rakamaina namuunaa eluka. "scurfy" elukalu mariyu janyuvulo 2 bays jatalanu choppinchaayi. idhi mariyu janyuvulo frame shift mutationku daariteestundi mariyu vyakteekarinchabadina protein kattirinchabadutundi, idhi tregg kanaala kriyaatmaka lopaniki kaaranamavutundi. appudu, autoractive autoractive + tii kanaalu mariyu inflammatory kanaalu kanajaalam debbatinadaaniki kaaranamavutaayi. "scurfy" elukalu vistarinchina pleehamu mariyu shosharasa kanupulu, merise errati kallu mariyu poralu ledhaa "ruffled" charmam kaligi untaayi. elukalaku roganirodhaka shakti samasyalu kooda untaayi mariyu puttina sumaru 3 vaaraala tarvaata chanipotayi. 2000-2001 nundi, bahula adhyayanalu ipex anedi "scurfy" elukalaku samaanamaina maanava anie mariyu mariyu janyuvu dheeniki kaaranamani dhruvikarinchayi.

