imunodeficituri daavadebebi

manana Todua
 pirveladi imunodeficitebi

• imunuri sistemis erTi an meti komponentis

deficitis SemTxvevaSi viTardeba
imunodeficituri mdgomareoba.
imunodeficiti SeiZleba iyos pirveladi
(Tandayolili) da meoradi (SeZenili).
 pirveladi imunodeficitebi
• pirveladi imunodeficiti viTardeba imunuri genis mutaciis
SemTxvevaSi. pirveladi imunodeficitebis umravlesoba
vlindeba bavSvTa asakSi SebrunebiTi da mZime
infeqciebis saxiT. Mmcire memkvidruli anomalia SeiZleba
gamovlindes klinikurad cxovrebis mogvianebiT etapze.
Mmeoradi imunodeficiti raime daavadebis an garemo
faqtorebis da samedicino zemoqmedebis Sedegad
viTardeba. imunodeficitis klinikuri gamovlinebis
mixedviT, infeqciis tipis mixedviT vxvdebiT, Tu imunuri
sistemis romeli rgolia defeqturi
 pirveladi imunodeficitebi
• klasifikaciis safuZveklia imunuri meqanizmis is tipi, romlis
moSlac gamoiwvia konkretuli genis defeqtma. Larsebobs
limfocitebis funqciis darRveviT mimdinare daavadebebis sami
ZiriTadi jgufi: 1. antisxeulTa deficitiT -B humoruli imunitetis
genetikuri darRveva;
• 2. ujreduli imunodeficitiT _ ujreduli efeqtoruli meqanizmis
darRveviT mimdinare;
• 3. kombinirebuli imunodeficitebi _ orive rgolis dazianebiT.
• pirveladi imunodeficitis kidev ori didi jgufia.
• 1. fagocituri funqciis defeqtebi da
• 2. komplementis deficitebi..
 pirveladi imunodeficitebi
• imunodeficitebis yvela formisaTvis
damaxasiaTabelia infeqciisadmi gazrdili
mgrZnobeloba. imunodeficitis garkveul
formas garkveuli jgufis infeqciebisadmi
aqvs mometebuli mgrZnobeloba, Tumca
maTi gamowveva erTi da igive tipis
mikrobsac SeuZlia
 antisxeulebis deficiti

• gestaciis bolo periodSi adamianis IgG-is done

mozrdilis dones utoldeba, 6-12 Tvis asakSi
endogenuli IgG-is produqciis daklebasTan
erTad misi done TandaTan iklebs, rasac
SeiZleba infeqciebis ganviTareba mohyves, ris
gamoc xSiria mri baqteriuli infeqciebi, sefsisi
da enterovirusuli infeqciebi
 antisxeulebis deficits miekuTvneba

• X genTan SeWiduli autosomur-recesiuli

agamaglobulinemia;
• IgA-s deficiti;
• IgG-is deficiti;
• axalSobilTa gardamavali
hipogamaglobulinemia;
• specifikuri antisxeulebis deficiti.
 antisxeulebis deficiti
• yvelaze xSiria X_ genTan SeWiduli agamaglobulinemia
(brutonis daavadeba, Tiroqsinkinazis defeqti). igi Seadgens
yvela deficitis 80-90 %-s. is vaJebSi aRwera avtorma.
Tiroqsinkinaza pre-B ujredis momwifebisTvis aris saWiro. X_
genTan SeWiduli agamaglobulinemiis dros sisxlis SratSi IgA
ar aris, B ujredis ricxvi mkveTradaa Semcirebuli, an saerTod
ar aris. limfur kvanZebSi ar aris Canasaxovani centrebi,
qsovilebSi plazmuri ujredebi, T-ujredebi ki normaSia.
SeiZleba Segvxvdes defeqtis sxva SemTxvevebi, mutaciebi
IgG-is B jaWvis genSi da a.S. yvela es defeqti B ujredis
ganviTarebas pre-B ujredul stadiaze blokavs
 hiper_ IgM -is sindromi
• hiper_ IgM -is sindromi (IgG da IgA dabalia,
IgM normaSia, an momatebuli)
• daavadebis genetikuri safuZveli ucnobia.
Mmravalnairad vlindeba, rogorc bavSvebSi, ise
mozrdilebSi. B ujredis diferenciaciis blokireba
xdeba, IgG da xSirad IgA-s done daqveiTebulia.
 IgA- s deficiti
• umravlesobas am daavadebiT raime
klinika ara aqvT, Tumca damaxasiaTebelia
xSiri mri, sinusitebi, pnevmonia da a.S.
 ujreduli imunodeficiti
• bevria genetikuri darRveva, roca ujreduli
efeqtoruli rgoli ziandeba da antisxeulTa
warmoqmna xeluxlebelia. Aam dros
genetikuri defeqti exeba T, NK an sxva
mononuklearul ujredebs. sxvadasxva saxis
genetikurma dazianebam SeiZleba erTi da
igive citokinebis deficiti gamoiwvios.
 kombinirebuli deficitebi
• mZime kombinirebuli imunodeficiti _ yvelaze mZime dazianebaa.
is xSirad limfocitebis xSiri moSliT xasiaTdeba. Kklinikurad:
qronikuli diarea, SebrunebiTi da qronikuli da respiratoruli
infeqciebi, oportunistuli da disiminirebuli infeqciebi. yvelaze
xSiria mutacia IL-2R genSi, romelic akontrolebs cilas, romelsac
ewodeba citokinebis receptorebis saerTo gama jaWvi. pacientTa
nawilSi alimfocitozi aRiniSneba. pacientTa naxevarSi mutacias
erTi an ori geni ganicdis, romlebic T da B ujredebis ganviTarebis
procesSi imunoglobulinebis da T ujredebis somatur
rekombinacias aregulirebs. Yyvelaze gavrcelebuli formaa _
adenozindeaminazas deficiti, ufro iSviaTia purin_nukleozid-
fosforilazas deficiti. irRveva nukleotidTa biosinTezi. T da B
ganviTareba ferxdeba, maTi sicocxlis xangrZlivoba mcirdeba
 viskot_oldrijis sindromi

• X_ genTan SeWiduli viskot_oldrijis klasikuri

triada:
• egzema;
• Trombocitopemia;
• imunodeficiti (baqteriuli infeqciisadmi
mgrZnobiare); am dros xdeba e.w. viskot_oldrijis
cilis deficiti, romelic T da B ujredebis
urTierTobaSi mniSvnelovan rols asrulebs.
 ataqsia_teleangioeqtazia

imunodeficitTan asocirebuli mravalsistemuri Tandayolili

daavadebaa. damaxasiaTebelia:
• imunodeficiti:
• cerebraluri ataqsia;
• okolokutanuri teleangioeqtazia.
• mgrZnobiareni arian radiaciisadmi da avTvisebiani zrdis
maRali riski aqvT (limfoma, leikemia). mutacias ganicdis
geni, romelic dnm ormagi jaWvis aRdgenaSi
mniSvnelovan rols asrulebs. Mmisi defeqti iwvevs ujreduli
ciklis darRvevas, rac dnm dazianebis dros ujredis gayofis
SeCerebas iwvevs. Damave mizeziT irRveva limfocitTa
normaluri ganviTareba.
 di_jorjis sindromi
• T ujredebis deficiti viTardeba me-3 me-4
salayuCe jibis ganviTarebis defeqtis Sedegad.
Aam dros Timusisa da farisebraxlo jirkvlebis
ganuviTareblobasTan erTad im struqturebis
defeqtic aRniSneba, romlebic imave salayuCe
jirkvlebidan viTardeba. Ddaavadebaze
pasuxismgebeli geni dRemde ucnobia. axasiaTebs:
• kardialuri anomaliebi;
• hipoparaTireoidizmi;
• saxis dismofizmi.
 di_jorjis sindromi
• periferiuli sisxlidan T limfocitebi qreba an mkveTrad
mcirdeba. xSiria virusuli, sokovani an mikobaqteriebiT
gamowveuli infeqciebi. 95%-Si SratSi alfa_fetoproteinis
done momatebulia. Kkoreqcia _ nayofis Timusis an HLA _
identuri Zvlis tvinis gadanergviT SeiZleba, Tumca aseTi
mkurnaloba Cveulebriv saWiro ar aris, radgan T
limfocitebis funqcia asakTan umjobesdeba da 5 wlisaTvis
normasac ki aRwevs. Aamis mizezi SeiZleba iyos dRemde
ucnobi Timusis gareTa limfocitebis momwifebis zonis
arseboba. Aaseve SeiZleba vifiqroT, rom pacientis
mdegomareoba sicocxlesTan SeuTavsebeli ar aris Timusis
qsovili sadme sxvagan eqtopiurad viTardeba.
 Cediak_higaSis sindromi
• iseTi mutaciis Sedegia, romelic azianebs
satransporto lizosomur cilas, rac xels uSlis
fagolizosomis warmoqmnas. Nneitrofilebs
giganturi lizosomebi aqvT. imunodeficitis
garda damaxasiaTebelia:
• _ albinizmi;
• _ Trombocitebis funqciis darRveva;
• _ nevrologiuri defeqtebi.
 imunodeficitebis mkurnaloba
mizani:
• infeqciebis Semcireba da kontroli;
• defeqturi da ararsebuli komponentebis Canacvldeba adopturi
gadataniT (transferiT) an gadanergviT.
• Agamaglobulinemiisa da Cveuli gardamavali imunodeficitis
mkurnalobis ZiriTad meTods warmoadgens venaSi an
kanqveS adamianis gawmendili imunoglobulinebis Seyvana.
Mintravenuli imunoglobulinebi gamoiyeneba kombinirebuli
imunodeficitebis dros sanam sxva saxis mkurnalobas
Cautareben. antisxeulebis an kombinirebuli imunodeficitis
pacientebSi baqteriuli infeqciebis samkurnalod periodulad
antibiutikoTerapiaa saWiro.
 imunodeficitebis mkurnaloba
• ujreduli imunodeficitis dros aranairi
`CanacvlebiTi~ Terapia ar arsebobs. Aaq
mizanSewoniloa profilaqtikuri mkurnaloba an
infeqciuri garTulebis agresiuli mkurnaloba.
dRemde mZime kombinirebuli imunodeficitis
gadarCenis erTaderTi saSualebaa Zvlis Tvinis
transplantacia. is aseve warmatebiT gamoiyeneba
sxva dros, mag. viskot_oldrijis sindromis dros.
aRsaniSnavia, rom mZime kombinirebuli
imunodeficitis mqone ramdenime pacientSi genuri
Terapia warmatebiT ganxorcielda.
 Tandayolili imunodeficitebi
X-Tan SeWiduli agamaglobulinemia
B+K deficiti

B ujredebis
momwifeba

Rero
ujredi pro-B pre-B umwifari -B mwife - B

ADA, PNP deficiti RAG1, RaG2, deficiti

(autosomuri SCID) (autosomuri SCID)

T ujredebis
momwifeba
Rero pro-T
ujredi pre-T ormag umwifari -BT gulubryvilo
pozitiuri
mwife T

X-Tan
SeWiduli SCID MHC-II klasis deficiti
TAP1 da TAP2-is
di-jorjis sindromi deficiti
 gmadlobT
yuradRebisaTvis