Dataset with samples from Individuals with:
A- Defects in Intrinsic and Innate Immunity:
1)- TLR signaling pathway deficiency: MyD88 deficiency, Phenotype OMIM number 612260
B- Combined immunodeficiencies with associated or syndromic features:
1)- HOLI1/RBCK1 deficiency, Phenotype OMIM number 615895
2)- Anhidrotic ectodermalsysplasia with immunodeficiencies: NEMO deficiency, Phenotype OMIM number 300291
see PID classification: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4659841/
HOIL-1 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 effect of TNF-? and IL-1? on transcriptional changes of primary fibroblasts from HOIL-1-, MYD88- and NEMO-deficient patients.
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Primary fibroblasts were obtained from HOIL-1, MYD88- and NEMO-deficient patients and healthy donors and stimulated with TNF-? or IL-1? for 2 and 6 hours. RNA were extracted and globin reduced. Labeled cRNA were hybridized to Illumina Human HT-12 Beadchips.
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| Sample ID | !Sample Title | group | time | subject | stimulation |
|---|---|---|---|---|---|
| GSM996523 | C1 Non stimulate (6334175026_A) | Control No stimulation 2h | 2 hours | Healthy 1 | Medium |
| GSM996524 | C1 Non stimulate (6334175031_J) | Control No stimulation 6h | 6 hours | Healthy 1 | Medium |
| GSM996525 | C1 IL1 - 2h (6334175040_A) | Control IL1b 2h | 2 hours | Healthy 1 | IL-1b |
| GSM996526 | C1 IL1 - 6h (6334175046_G) | Control IL1b 6h | 6 hours | Healthy 1 | IL-1b |
| GSM996527 | C1 TNF - 2h (6334175044_I) | Control TNFa 2h | 2 hours | Healthy 1 | TNF-a |
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| Sample ID | !Sample Title | Group | Time | Subject | Stimulation | Disease state |
|---|---|---|---|---|---|---|
| GSM996523 | C1 Non stimulate (6334175026_A) |
Control No stimulation 2h |
2 hours |
Healthy 1 |
Medium |
Healthy |
| GSM996524 | C1 Non stimulate (6334175031_J) |
Control No stimulation 6h |
6 hours |
Healthy 1 |
Medium |
Healthy |
| GSM996525 | C1 IL1 - 2h (6334175040_A) |
Control IL1b 2h |
2 hours |
Healthy 1 |
IL-1b |
Healthy |
| GSM996526 | C1 IL1 - 6h (6334175046_G) |
Control IL1b 6h |
6 hours |
Healthy 1 |
IL-1b |
Healthy |
| GSM996527 | C1 TNF - 2h (6334175044_I) |
Control TNFa 2h |
2 hours |
Healthy 1 |
TNF-a |
Healthy |
| GSM996528 | C1 TNF - 6h (6334175036_D) |
Control TNFa 6h |
6 hours |
Healthy 1 |
TNF-a |
Healthy |
| GSM996529 | C2 Non stimulate (6334175026_B) |
Control No stimulation 2h |
2 hours |
Healthy 2 |
Medium |
Healthy |
| GSM996530 | C2 Non stimulate (6334175031_C) |
Control No stimulation 6h |
6 hours |
Healthy 2 |
Medium |
Healthy |
| GSM996531 | C2 IL1 - 2h (6334175046_J) |
Control IL1b 2h |
2 hours |
Healthy 2 |
IL-1b |
Healthy |
| GSM996532 | C2 IL1 - 6h (6334175030_A) |
Control IL1b 6h |
6 hours |
Healthy 2 |
IL-1b |
Healthy |
| GSM996533 | C2 TNF - 2h (6334175027_K) |
Control TNFa 2h |
2 hours |
Healthy 2 |
TNF-a |
Healthy |
| GSM996534 | C2 TNF - 6h (6334175040_G) |
Control TNFa 6h |
6 hours |
Healthy 3 |
TNF-a |
Healthy |
| GSM996535 | C3 Non stimulate (6334175031_A) |
Control No stimulation 2h |
2 hours |
Healthy 3 |
Medium |
Healthy |
| GSM996536 | C3 Non stimulate (6334175040_K) |
Control No stimulation 6h |
6 hours |
Healthy 3 |
Medium |
Healthy |
| GSM996537 | C3 IL1 - 2h (6334175029_A) |
Control IL1b 2h |
2 hours |
Healthy 3 |
IL-1b |
Healthy |
| GSM996538 | C3 IL1 - 6h (6334175026_E) |
Control IL1b 6h |
6 hours |
Healthy 3 |
IL-1b |
Healthy |
| GSM996539 | C3 TNF - 2h (6334175030_F) |
Control TNFa 2h |
2 hours |
Healthy 3 |
TNF-a |
Healthy |
| GSM996540 | C3 TNF - 6h (6334175031_L) |
Control TNFa 6h |
6 hours |
Healthy 3 |
TNF-a |
Healthy |
| GSM996541 | C4 Non stimulate (6334175026_D) |
Control No stimulation 2h |
2 hours |
Healthy 4 |
Medium |
Healthy |
| GSM996542 | C4 Non stimulate (6334175030_I) |
Control No stimulation 6h |
6 hours |
Healthy 4 |
Medium |
Healthy |
| GSM996543 | C4 IL1 - 2h (6334175030_B) |
Control IL1b 2h |
2 hours |
Healthy 4 |
IL-1b |
Healthy |
| GSM996544 | C4 IL1 - 6h (6334175046_H) |
Control IL1b 6h |
6 hours |
Healthy 4 |
IL-1b |
Healthy |
| GSM996545 | C4 TNF - 2h (6334175044_D) |
Control TNFa 2h |
2 hours |
Healthy 4 |
TNF-a |
Healthy |
| GSM996546 | C4 TNF - 6h (6334175046_F) |
Control TNFa 6h |
6 hours |
Healthy 4 |
TNF-a |
Healthy |
| GSM996547 | Myd88 Non stimul (6334175030_C) |
Myd88 Non stimulation 2h |
2 hours |
Myd88 deficiency |
Medium |
Myd88 deficiency |
| GSM996548 | Myd88 Non stimul (6334175036_I) |
Myd88 Non stimulation 6h |
6 hours |
Myd88 deficiency |
Medium |
Myd88 deficiency |
| GSM996549 | Myd88 IL1 - 2h (6334175031_B) |
Myd88 IL1b 2h |
2 hours |
Myd88 deficiency |
IL-1b |
Myd88 deficiency |
| GSM996550 | Myd88 IL1 - 6 hour (6334175031_H) |
Myd88 IL1b 6h |
6 hours |
Myd88 deficiency |
IL-1b |
Myd88 deficiency |
| GSM996551 | Myd88 TNF - 2 hour (6334175044_E) |
Myd88 TNFa 2h |
2 hours |
Myd88 deficiency |
TNF-a |
Myd88 deficiency |
| GSM996552 | Myd88 TNF - 6 hour (6334175046_K) |
Myd88 TNFa 6h |
6 hours |
Myd88 deficiency |
TNF-a |
Myd88 deficiency |
| GSM996553 | NEMO Non stimula (6334175040_I) |
NEMO Non stimulation 2h |
2 hours |
NEMO deficeincy |
Medium |
NEMO deficeincy |
| GSM996554 | NEMO Non stimula (6334175044_B) |
NEMO Non stimulation 6h |
6 hours |
NEMO deficeincy |
Medium |
NEMO deficeincy |
| GSM996555 | NEMO IL1 - 2 hour (6334175044_L) |
NEMO IL1b 2h |
2 hours |
NEMO deficeincy |
IL-1b |
NEMO deficeincy |
| GSM996556 | NEMO IL1 - 6 hour (6334175046_E) |
NEMO IL1b 6h |
6 hours |
NEMO deficeincy |
IL-1b |
NEMO deficeincy |
| GSM996557 | NEMO TNF - 2h (6334175029_J) |
NEMO TNF 2h |
2 hours |
NEMO deficeincy |
TNF-a |
NEMO deficeincy |
| GSM996558 | NEMO TNF - 6 hour (6334175044_J) |
NEMO TNF 6h |
6 hours |
NEMO deficeincy |
TNF-a |
NEMO deficeincy |
| GSM996559 | P1 Non stimulate (6334175029_F) |
HOIL Non stimulation 2h |
2 hours |
HOIL deficiency 1 |
Medium |
HOIL deficiency |
| GSM996560 | P1 Non stimulate (6334175045_A) |
HOIL Non stimulation 6h |
6 hours |
HOIL deficiency 1 |
Medium |
HOIL deficiency |
| GSM996561 | P1 IL1 - 2h (6334175036_E) |
HOIL IL1b 2h |
2 hours |
HOIL deficiency 1 |
IL-1b |
HOIL deficiency |
| GSM996562 | P1 IL1 - 6h (6334175046_B) |
HOIL IL1b 6h |
6 hours |
HOIL deficiency 1 |
IL-1b |
HOIL deficiency |
| GSM996563 | P1 TNF - 2h (6334175040_B) |
HOIL TNFa 2h |
2 hours |
HOIL deficiency 1 |
TNF-a |
HOIL deficiency |
| GSM996564 | P1 TNF - 6h (6334175044_C) |
HOIL TNFa 6h |
6 hours |
HOIL deficiency 2 |
TNF-a |
HOIL deficiency |
| GSM996565 | P2 Non stimulate (6334175026_L) |
HOIL Non stimulation 2h |
2 hours |
HOIL deficiency 2 |
Medium |
HOIL deficiency |
| GSM996566 | P2 Non stimulate (6334175031_K) |
HOIL Non stimulation 6h |
6 hours |
HOIL deficiency 2 |
Medium |
HOIL deficiency |
| GSM996567 | P2 IL1 - 2h (6334175036_F) |
HOIL IL1b 2h |
2 hours |
HOIL deficiency 2 |
IL-1b |
HOIL deficiency |
| GSM996568 | P2 IL1 - 6h (6334175031_D) |
HOIL IL1b 6h |
6 hours |
HOIL deficiency 2 |
IL-1b |
HOIL deficiency |
| GSM996569 | P2 TNF - 2h (6334175030_E) |
HOIL TNFa 2h |
2 hours |
HOIL deficiency 2 |
TNF-a |
HOIL deficiency |
| GSM996570 | P2 TNF - 6h (6334175030_J) |
HOIL TNFa 6h |
6 hours |
HOIL deficiency 2 |
TNF-a |
HOIL deficiency |
| GSM996571 | P3 Non stimulate (6334175029_G) |
HOIL Non stimulation 2h |
2 hours |
HOIL deficiency 3 |
Medium |
HOIL deficiency |
| GSM996572 | P3 Non stimulate (6334175030_G) |
HOIL Non stimulation 6h |
6 hours |
HOIL deficiency 3 |
Medium |
HOIL deficiency |
| GSM996573 | P3 IL1 - 2h (6334175027_G) |
HOIL IL1b 2h |
2 hours |
HOIL deficiency 3 |
IL-1b |
HOIL deficiency |
| GSM996574 | P3 IL1 - 6h (6334175040_H) |
HOIL IL1b 6h |
6 hours |
HOIL deficiency 3 |
IL-1b |
HOIL deficiency |
| GSM996575 | P3 TNF - 2h (6334175026_I) |
HOIL TNFa 2h |
2 hours |
HOIL deficiency 3 |
TNF-a |
HOIL deficiency |
| GSM996576 | P3 TNF - 6h (6334175046_A) |
HOIL TNFa 6h |
6 hours |
HOIL deficiency 3 |
TNF-a |
HOIL deficiency |
| Name | ||
|---|---|---|
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