Dataset with samples from Individuals with Combined immunodeficiencies with associated or syndrome features:

1)- Immune-osseous dysplasias:

- Schimke immuno-osseous dysplasia (SIOD), SMARCAL1 deficiency, Phenotype OMIM number 242900

see PID classification: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4659841/

Schimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder caused by biallelic mutations in SWI/SNF-related matrix associated actin-dependent regulator of chromatin, subfamily A-like protein 1 (SMARCAL1). Changes in gene expression appear to underlie the immunodeficiency and arteriosclerosis of SIOD; therefore, we hypothesized that SMARCAL1 deficiency alters renal gene expression to cause the focal segmental glomerulosclerosis (FSGS) of SIOD, and that these gene expression alterations would be comparable to those observed in isolated FSGS. We tested this hypothesis by gene expression microarray analysis.

Comparison of gene expression between the cultured primary renal proximal tubular cells of a Schimke immuno-osseous dysplasia (SIOD) patient and of a patient with non-SIOD-associated FSGS