We describe here a male infant with a 100 kb de novo Xq28 deletion encompassing parts of the TMEM187 and MECP2 protein-coding genes and the IRAK1 protein-coding gene, as well as the MIR3202-1, MIR3202-2, and MIR718 RNA-coding genes. We analyzed the impact of human IRAK-1 deficiency on a genome-wide gene expression in human fibroblasts in response to TLR2/6, TLR4 agonists as well as to IL-1? and TNF-?, using primary fibroblasts from healthy controls and IRAK-4-, MyD88- and MECP2-deficient patients for comparison.

Primary fibroblasts were derived from a boy with a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1 (herein referred to as “P”), and for comparison, previously described patients with deficiencies for IRAK-4 (n=1), MyD88 (n=1) and MECP2 (n=1) as well as healthy controls (n=3). Fibroblasts were used to seed culture plates which were incubated overnight and then either left unstimulated or stimulated for 6 hours with PAM-2 (10 ?g/ml), FSL-1 (1 ?g/ml), LPS (10 ?g/ml), MPLA (1 ?g/ml), IL-1? (10 ng/ml) or TNF-? (20 ng/ml).