Dataset with samples from Individuals with:
A- defects in Intrinsic and Innate Immunity:
1)- Herpes simplex encephalitis (HSE): UNC93B1 deficiency, Phenotype OMIM number 610551
2)- TLR signaling pathway deficiency:
- MyD88 deficiency, Phenotype OMIM number 612260
- IRAK-4 deficiency, Phenotype OMIM number 607676
3)- Predisposition to severe viral infection: STAT1 deficiency, Phenotype OMIM number 613796
B- Autoinflammatory disorders:
1)- Defects effecting the inflammasome:
- Muckle-Wells syndrome (MWS), Phenotype OMIM number 191900
- Chronic infantile neurological cutaneous articular syndrome (CINCA), Phenotype OMIM number 607115
- Mevalonate kinase deficiency (MVK), Phenotype OMIM number 260920
PID classification: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4659841/
HOIL1 deficient disease is a new early onset fatal autosomal recessive human disorder charaterized by chronic auto-inflammation, recurrent invasive bacterial infections and progressive muscular amylopectinosis. We studied the transcriptional profiles of whole blood from one HOIL dificient patient and other auto-inflammatory patients, including CINCA, Muckle-Wells syndrome and MVK deficiency.
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Whole blood was collected in Tempus tubes from 41 healthy children and patients with CINCA (2), MWS (5), MVK deficiency (2) and HOIL deficiency (1) diseases. RNA was extracted and globin reduced. Labeled cRNA was hybridized to Illumina Human HT-12 Beadchips.
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Sample ID | !Sample Title | tissue | group |
---|---|---|---|
GSM996577 | H037 | whole blood | Healthy |
GSM996578 | H127 | whole blood | Healthy |
GSM996579 | H153 | whole blood | Healthy |
GSM996580 | H155 | whole blood | Healthy |
GSM996581 | H159 | whole blood | Healthy |
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Sample ID | !Sample Title | Tissue | Group |
---|---|---|---|
GSM996577 | H037 |
whole blood |
Healthy |
GSM996578 | H127 |
whole blood |
Healthy |
GSM996579 | H153 |
whole blood |
Healthy |
GSM996580 | H155 |
whole blood |
Healthy |
GSM996581 | H159 |
whole blood |
Healthy |
GSM996582 | H164 |
whole blood |
Healthy |
GSM996583 | H184 |
whole blood |
Healthy |
GSM996584 | H198 |
whole blood |
Healthy |
GSM996585 | H199 |
whole blood |
Healthy |
GSM996586 | H200 |
whole blood |
Healthy |
GSM996587 | H201 |
whole blood |
Healthy |
GSM996588 | H202 |
whole blood |
Healthy |
GSM996589 | H204 |
whole blood |
Healthy |
GSM996590 | H205 |
whole blood |
Healthy |
GSM996591 | H213 |
whole blood |
Healthy |
GSM996592 | H219 |
whole blood |
Healthy |
GSM996593 | H220 |
whole blood |
Healthy |
GSM996594 | H225 |
whole blood |
Healthy |
GSM996595 | H226 |
whole blood |
Healthy |
GSM996596 | H228 |
whole blood |
Healthy |
GSM996597 | H229 |
whole blood |
Healthy |
GSM996598 | H231 |
whole blood |
Healthy |
GSM996599 | H240 |
whole blood |
Healthy |
GSM996600 | H241 |
whole blood |
Healthy |
GSM996601 | H244 |
whole blood |
Healthy |
GSM996602 | H256 |
whole blood |
Healthy |
GSM996603 | H257 |
whole blood |
Healthy |
GSM996604 | H275 |
whole blood |
Healthy |
GSM996605 | H287 |
whole blood |
Healthy |
GSM996606 | H288 |
whole blood |
Healthy |
GSM996607 | H289 |
whole blood |
Healthy |
GSM996608 | H332 |
whole blood |
Healthy |
GSM996609 | H646 |
whole blood |
Healthy |
GSM996610 | H996 |
whole blood |
Healthy |
GSM996611 | H192 |
whole blood |
Healthy |
GSM996612 | H1181 |
whole blood |
Healthy |
GSM996613 | H1183 |
whole blood |
Healthy |
GSM996614 | H1239 |
whole blood |
Healthy |
GSM996615 | H1242 |
whole blood |
Healthy |
GSM996616 | H1245 |
whole blood |
Healthy |
GSM996617 | H1246 |
whole blood |
Healthy |
GSM996618 | P1 |
whole blood |
HOIL dificiency |
GSM996619 | CINCA05 |
whole blood |
CINCA syndrome |
GSM996620 | CINCA06 |
whole blood |
CINCA syndrome |
GSM996621 | MWS11 |
whole blood |
MWS |
GSM996622 | MWS12 |
whole blood |
MWS |
GSM996623 | MVK271 |
whole blood |
MVK deficiency |
GSM996624 | MVK272 |
whole blood |
MVK deficiency |
GSM996625 | MWS56 |
whole blood |
MWS |
GSM996626 | MWS57 |
whole blood |
MWS |
GSM996627 | MWS81 |
whole blood |
MWS |
Name | ||
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