Dataset with samples from Individuals with:
A- Combined immunodeficiencies with associated or syndromic features:
1)- HOLI1/RBCK1 deficiency, Phenotype OMIM number 615895
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 PBMCs from HOIL-1- and MYD88-deficient patients.
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PBMCs were obtained from HOIL-1 and MYD88-deficient patients and healthy donors and stimulated with TNF-? or IL-1? for 2 and 6 hours. RNA were extracted. Labeled cRNA were hybridized to Illumina Human HT-12 V4 Beadchips.
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Sample ID | !Sample Title | group | time | subject | Cell type |
---|---|---|---|---|---|
GSM1003013 | PBMC C1 IL1 -2h 6334175045_G | Control IL1b 2h | 2 hours | Healthy 1 | PBMC |
GSM1003014 | PBMC C1 IL1 -6h 6334175036_L | Control IL1b 6h | 6 hours | Healthy 1 | PBMC |
GSM1003015 | PBMC C1 Non stimulate -2h 6334175027_F | Control no stimulation 2h | 2 hours | Healthy 1 | PBMC |
GSM1003016 | PBMC C1 Non stimulate -6h 6334175046_L | Control no stimulation 6h | 6 hours | Healthy 1 | PBMC |
GSM1003017 | PBMC C1 TNF -2h 6334175027_I | Control TNFa 2h | 2 hours | Healthy 1 | PBMC |
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Sample ID | !Sample Title | Group | Time | Subject | Cell type | Stimulation | Disease state |
---|---|---|---|---|---|---|---|
GSM1003013 | PBMC C1 IL1 -2h 6334175045_G |
Control IL1b 2h |
2 hours |
Healthy 1 |
PBMC |
IL-1b |
Healthy |
GSM1003014 | PBMC C1 IL1 -6h 6334175036_L |
Control IL1b 6h |
6 hours |
Healthy 1 |
PBMC |
IL-1b |
Healthy |
GSM1003015 | PBMC C1 Non stimulate -2h 6334175027_F |
Control no stimulation 2h |
2 hours |
Healthy 1 |
PBMC |
Medium |
Healthy |
GSM1003016 | PBMC C1 Non stimulate -6h 6334175046_L |
Control no stimulation 6h |
6 hours |
Healthy 1 |
PBMC |
Medium |
Healthy |
GSM1003017 | PBMC C1 TNF -2h 6334175027_I |
Control TNFa 2h |
2 hours |
Healthy 1 |
PBMC |
TNF-a |
Healthy |
GSM1003018 | PBMC C1 TNF -6h 6334175045_B |
Control TNFa 6h |
6 hours |
Healthy 1 |
PBMC |
TNF-a |
Healthy |
GSM1003019 | PBMC C2 IL1 -2h 6334175027_A |
Control IL1b 2h |
2 hours |
Healthy 2 |
PBMC |
IL-1b |
Healthy |
GSM1003020 | PBMC C2 IL1 -6h 6334175048_A |
Control IL1b 6h |
6 hours |
Healthy 2 |
PBMC |
IL-1b |
Healthy |
GSM1003021 | PBMC C2 Non stimulate -2h 6334175044_H |
Control no stimulation 2h |
2 hours |
Healthy 2 |
PBMC |
Medium |
Healthy |
GSM1003022 | PBMC C2 Non stimulate -6h 6334175044_A |
Control no stimulation 6h |
6 hours |
Healthy 2 |
PBMC |
Medium |
Healthy |
GSM1003023 | PBMC C2 TNF -2h 6334175045_H |
Control TNFa 2h |
2 hours |
Healthy 2 |
PBMC |
TNF-a |
Healthy |
GSM1003024 | PBMC C2 TNF -6h 6334175030_D |
Control TNFa 6h |
6 hours |
Healthy 3 |
PBMC |
TNF-a |
Healthy |
GSM1003025 | PBMC C3 IL1 -2h 6334175048_B |
Control IL1b 2h |
2 hours |
Healthy 3 |
PBMC |
IL-1b |
Healthy |
GSM1003026 | PBMC C3 IL1 -6h 6334175030_L |
Control IL1b 6h |
6 hours |
Healthy 3 |
PBMC |
IL-1b |
Healthy |
GSM1003027 | PBMC C3 Non stimulate -2h 6334175027_L |
Control no stimulation 2h |
2 hours |
Healthy 3 |
PBMC |
Medium |
Healthy |
GSM1003028 | PBMC C3 Non stimulate -6h 6334175040_J |
Control no stimulation 6h |
6 hours |
Healthy 3 |
PBMC |
Medium |
Healthy |
GSM1003029 | PBMC C3 TNF -2h 6334175026_C |
Control TNFa 2h |
2 hours |
Healthy 3 |
PBMC |
TNF-a |
Healthy |
GSM1003030 | PBMC C3 TNF -6h 6334175045_J |
Control TNFa 6h |
6 hours |
Healthy 3 |
PBMC |
TNF-a |
Healthy |
GSM1003031 | PBMC MYD88-(1) IL1 -2h 6334175030_K |
MYD88 IL1b 2h |
2 hours |
Myd88 deficiency 1 |
PBMC |
IL-1b |
Myd88 deficiency |
GSM1003032 | PBMC MYD88-(1) IL1 -6h 6334175029_B |
MYD88 IL1b 6h |
6 hours |
Myd88 deficiency 1 |
PBMC |
IL-1b |
Myd88 deficiency |
GSM1003033 | PBMC MYD88-(1) Non stimulate -2h 6334175031_I |
MYD88 no stimulation 2h |
2 hours |
Myd88 deficiency 1 |
PBMC |
Medium |
Myd88 deficiency |
GSM1003034 | PBMC MYD88-(1) Non stimulate -6h 6334175040_D |
MYD88 no stimulation 6h |
6 hours |
Myd88 deficiency 1 |
PBMC |
Medium |
Myd88 deficiency |
GSM1003035 | PBMC MYD88-(1) TNF -2h 6334175036_B |
MYD88 TNFa 2h |
2 hours |
Myd88 deficiency 1 |
PBMC |
TNF-a |
Myd88 deficiency |
GSM1003036 | PBMC MYD88-(1) TNF -6h 6334175048_C |
MYD88 TNFa 6h |
6 hours |
Myd88 deficiency 1 |
PBMC |
TNF-a |
Myd88 deficiency |
GSM1003037 | PBMC MYD88-(2) IL1 -2h 6334175029_D |
MYD88 IL1b 2h |
2 hours |
Myd88 deficiency 2 |
PBMC |
IL-1b |
Myd88 deficiency |
GSM1003038 | PBMC MYD88-(2) IL1 -6h 6334175036_K |
MYD88 IL1b 6h |
6 hours |
Myd88 deficiency 2 |
PBMC |
IL-1b |
Myd88 deficiency |
GSM1003039 | PBMC MYD88-(2) Non stimulate -2h 6334175040_L |
MYD88 no stimulation 2h |
2 hours |
Myd88 deficiency 2 |
PBMC |
Medium |
Myd88 deficiency |
GSM1003040 | PBMC MYD88-(2) Non stimulate -6h 6334175036_H |
MYD88 no stimulation 6h |
6 hours |
Myd88 deficiency 2 |
PBMC |
Medium |
Myd88 deficiency |
GSM1003041 | PBMC MYD88-(2) TNF -2h 6334175030_H |
MYD88 TNFa 2h |
2 hours |
Myd88 deficiency 2 |
PBMC |
TNF-a |
Myd88 deficiency |
GSM1003042 | PBMC MYD88-(2) TNF -6h 6334175036_A |
MYD88 TNFa 6h |
6 hours |
Myd88 deficiency 2 |
PBMC |
TNF-a |
Myd88 deficiency |
GSM1003043 | PBMC P1 IL1 -6h 6334175029_E |
HOIL IL1b 6h |
6 hours |
HOIL deficiency 1 |
PBMC |
IL-1b |
HOIL deficiency |
GSM1003044 | PBMC P1 Non stimulate -6h 6334175026_H |
HOIL no stimulation 6h |
6 hours |
HOIL deficiency 1 |
PBMC |
Medium |
HOIL deficiency |
GSM1003045 | PBMC P1 TNF -6h 6334175036_C |
HOIL TNFa 6h |
6 hours |
HOIL deficiency 1 |
PBMC |
TNF-a |
HOIL deficiency |
GSM1003046 | PBMC P2 IL1 -2h 6334175045_L |
HOIL IL1b 2h |
2 hours |
HOIL deficiency 2 |
PBMC |
IL-1b |
HOIL deficiency |
GSM1003047 | PBMC P2 IL1 -6h 6334175027_E |
HOIL IL1b 6h |
6 hours |
HOIL deficiency 2 |
PBMC |
IL-1b |
HOIL deficiency |
GSM1003048 | PBMC P2 Non stimulate -2h 6334175031_G |
HOIL no stimulation 2h |
2 hours |
HOIL deficiency 2 |
PBMC |
Medium |
HOIL deficiency |
GSM1003049 | PBMC P2 Non stimulate -6h 6334175044_F |
HOIL no stimulation 6h |
6 hours |
HOIL deficiency 2 |
PBMC |
Medium |
HOIL deficiency |
GSM1003050 | PBMC P2 TNF -2h 6334175046_I |
HOIL TNFa 2h |
2 hours |
HOIL deficiency 2 |
PBMC |
TNF-a |
HOIL deficiency |
GSM1003051 | PBMC P2 TNF -6h 6334175036_G |
HOIL TNFa 6h |
6 hours |
HOIL deficiency 2 |
PBMC |
TNF-a |
HOIL deficiency |
GSM1003052 | PBMC P3 IL1 -2h 6334175029_C |
HOIL IL1b 2h |
2 hours |
HOIL deficiency 3 |
PBMC |
IL-1b |
HOIL deficiency |
GSM1003053 | PBMC P3 IL1 -6h 6334175026_J |
HOIL IL1b 6h |
6 hours |
HOIL deficiency 3 |
PBMC |
IL-1b |
HOIL deficiency |
GSM1003054 | PBMC P3 Non stimulate -2h 6334175031_E |
HOIL no stimulation 2h |
2 hours |
HOIL deficiency 3 |
PBMC |
Medium |
HOIL deficiency |
GSM1003055 | PBMC P3 Non stimulate -6h 6334175045_E |
HOIL no stimulation 6h |
6 hours |
HOIL deficiency 3 |
PBMC |
Medium |
HOIL deficiency |
GSM1003056 | PBMC P3 TNF -2h 6334175036_J |
HOIL TNFa 2h |
2 hours |
HOIL deficiency 3 |
PBMC |
TNF-a |
HOIL deficiency |
GSM1003057 | PBMC P3 TNF -6h 6334175045_C |
HOIL TNFa 6h |
6 hours |
HOIL deficiency 3 |
PBMC |
TNF-a |
HOIL deficiency |
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