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.

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.