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Slajd 1
Zaburzenia odpornoĻci
Niedobory odpornoĻci typu komrkowego
i skojarzone
Barbara Zamorska
Genetic loci of primary immunodeficiency due to defects of
lymphocytes
Slajd 2
Disease
gene/protein
gene lokation
Wiskott-Aldrich syndrome WASP Xp11.23-p11.22
X-linked SCID Il2RG/ ( ȳ c) receptor Xq13.1-q21.1
X-linked lymphoprolferative syndrome SH2D1A/SAP Xq25
MHC class II deficiency RFX5 1q21.1-q21.3
CD45 deficiency CD45G/CD45 1q31-q32
ZAP-70 deficiency ZAP70 2q12
Mendelian suscept. to mycobact.inf. STAT1 2q32.2-q32.3
SCID Il7RA/ ŋ chain of Il7 recep. 5p13
Mendelian suscept. to mycobact.inf. Il12B
5q31.1-q33.1
MHC class I deficiency
TAP1,TAP2
6q21.3
Mendelian suscept. to mycobact.inf. IFNGR1
6q23-q24
Nijmengen breakage syndrome
NBS1/nibryn
8q21
CD25 deficiency
Il2RA/ ŋ chain Il2 recep. 10p15-p14
Athabascan SCID
Artemis
10p13
Di George syndrome
DGCR2/deletion 10p13 10p13
Genetic loci of primary immunodeficiency due to defects of
lymhocytes
Slajd 3
Disease
gene/protein
gene lokation
ALPS TNFRSF6/FAS (CD95) 10q24.1
SCID RAG1,RAG2 11p13
Ataxia-teleangiectasia ATM 11q22.3
CD3 deficiency CD3G,CD3E/ ȳō CD3 comp. 11Q23
MHC class II deficiency RFXAP 13q14
SCID-PNP deficiency PNP 14q13.1
MHC class II deficiency MHC2TA 16p13
MHC class II deficiency RFXANK 19p12
Mendelian suscept. to mycobac. inf. IL12RB1 19p13.1
SCID JAK3 19p13.1
SCID-ADA deficiency ADA 20q13.11
Mendelian suscept. to mycobac. inf. IFNGR2 21q22.1-g22.2
DiGeorge syndrome/velocardiofacial synd. DGS1/deletion 22q11 22q.112
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Classification of SCID by lymphocyte phenothype
Slajd 4
T(-)B(+)NK(-)
(1) Mutation in common ȳ chain ( ȳ c), Il 2RG gene, X-linked
(2) Mutation in Jak3 enzyme, JAK3 gene, AR
T(-)B(+)NK(+)
(3) Mutation in ŋ chain of Il-7 receptor, Il7RA gene, AR
T(-)B(-)NK(-)
(4) ADA deficiency,ADA gene, AR
(5) PNP deficiency, PNP gene, AR
T(-)B(-)NK(+)
(6) RAG1 or RAG2 deficiency, RAG1 or RAG2 gene, AR
(7) Omenn's synd., mutation in RAG1 or RAG2 leading to partial loss of function, AR
(8) Athabascan or Navajo SCID, mutation in Artemis gene product, AR
T(-)B(+)
(9) CD45 deficiency, CD45 gene, AR
(10) CD3 deficiences, mutations in CD3 ȳ or CD3 ō gene, AR
T(+)B(+)
(11) ZAP-70 deficiency, ZAP70 gene, AR
(12) Il-2 deficiency, unknown defect
(13) CD25 deficiency, defect in ŋ chain IL-2 receptor, Il2RA gene, AR
(14) MHC type I deficiency, mutation in either TAP1 or TAP2 gene, AR
(15) MHC type II deficiency, mutation in one several genes critical to HLA class II
transcription such as MHC2TA,RFX5,RFXANK,RFXAP, AR
Slajd 5
X-linked SCID Il2RG/ ( ȳ c) receptor Xq13.1-q21.1
skþadnik receptorw : Il 2, Il 4, Il 7, Il 9, Il 15, Il 21 .
SCID
Slajd 6
Defekt genw rekombinacji
Defects in the recombinase
activating genes-RAG1
and RAG2 .
SCID RAG1,RAG2 11p13
OmennÓs syndrom (OS),
Artemis, ( DNA repair factor)
Classification of SCID by lymphocyte phenothype
T(-)B(+)NK(-)
(1) Mutation in common ȳ chain ( ȳ c), Il 2RG gene, X-linked
(2) Mutation in Jak3 enzyme, JAK3 gene, AR
T(-)B(+)NK(+)
(3) Mutation in ŋ chain of Il-7 receptor, Il7RA gene, AR
T(-)B(-)NK(-)
(4) ADA deficiency,ADA gene, AR
(5) PNP deficiency, PNP gene, AR
T(-)B(-)NK(+)
(6) RAG1 or RAG2 deficiency, RAG1 or RAG2 gene, AR
(7) Omenn's synd., mutation in RAG1 or RAG2 leading to partial loss of function, AR
(8) Athabascan or Navajo SCID, mutation in Artemis gene product, AR
T(-)B(+)
(9) CD45 deficiency, CD45 gene, AR
(10) CD3 deficiences, mutations in CD3 ȳ or CD3 ō gene, AR
T(+)B(+)
(11) ZAP-70 deficiency, ZAP70 gene, AR
(12) Il-2 deficiency, unknown defect
(13) CD25 deficiency, defect in ŋ chain IL-2 receptor, Il2RA gene, AR
(14) MHC type I deficiency, mutation in either TAP1 or TAP2 gene, AR
(15) MHC type II deficiency, mutation in one several genes critical to HLA class II
transcription such as MHC2TA,RFX5,RFXANK,RFXAP, AR
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Slajd 7
chromosome 1
RFX5
chromosome 13
RFXAP
chromosome 16
CIITA
CIITA
+
chromosome 19
RFXANK
RF
X
chromosome 6
Zespþ nagich limfocytw
MHC class II genes (Reith, 1999)
BLS to choroba genw regulacji
(disease of gene regulation) .
Slajd 8
Zespþ Di Georga
(Di George syndrome DGS, CATCH 22)
Zespþ Wiskotta Aldricha
( Wiskott(1936)-Aldrich(1954) syndrome protein WAS),
X-linked disorder
Slajd 9
CIITA
RF
X
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Defects in pathways of cell death
X-linked lymphoprolferative syndrome SH2D1A/SAP Xq25
XLP, (Purtilo or DuncanÓs disease)
Slajd 10
B
T
Defects of DNA repair
Slajd 11
A-T, Ataxia-teleangiectasia, AR
NBS Nijmegen breakage syndrome, AR
Slajd 12
Diagnoza niedoboru
NawracajĢce infekcje, ostry przebieg nawracajĢcych infekcji, oportunistyczne
infekcje, niewyjaĻniona leukopenia lub limfopenia <1000 cm3,
trombocytopenia
Badanie
¤Atrofia peryferyjnych wħzþw limfatycznych i migdaþkw
¤Brak cienia grasicy
¤ZakaŇenia koĻci, wĢtroby, wrzody
¤Hepatosplenomegalia
¤Zaburzenia wzrostu
¤Inne nieprawidþowoĻci wrodzone
.
Diagnoza niedoboru
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Slajd 13
Testy immunologiczne :
¤ObecnoĻę rŇnych typw komrek we krwi
¤Subpopulacje limfocytw
¤StħŇenie immunoglobulin
¤AktywnoĻę fagocytarna ĻwieŇo izolowanych leukocytw i monocytw
¤ObecnoĻę i aktywnoĻę skþadowych dopeþniacza
Testy funkcji limfocytw
Identyfikacja genu
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