Background: Steroid resistant nephrotic syndrome (SRNS) is a rare condition, accounting for
10–15% of all children with idiopathic nephrotic syndrome. SRNS can be caused by genetic …

Although individually uncommon, rare diseases (RDs) collectively affect 6–8% of the
population. The unmet need of the rare disease community was recognized by the …

Schimke immuno-osseous dysplasia (SIOD) is a rare multisystemic disorder with a variable
clinical expressivity caused by biallelic variants in SMARCAL1. A phenotype–genotype …

Schimke immunoosseous dysplasia (SIOD) is characterized by spondyloepiphyseal
dysplasia (SED) resulting in short stature, nephropathy, and T cell deficiency. Radiographic …

Steroid-resistant nephrotic syndrome (SRNS) is a paradigmatic disease to illustrate the
major clinical consequences that can arise from genetic testing. Patients with pathogenic …

Oral findings such as inflammation, ulcerations, or lesions can indicate serious systemic
diseases and should prompt suspicion of acquired chronic conditions or inborn errors of …

Background Schimke immuno‐osseous dysplasia (SIOD) is a rare systemic disease
characterized by short stature, proteinuria, and recurrent infections. Patients usually have …

More than 450 genetic defects result in inborn errors of immunity (IEI). Their individual
prevalence in specific cohorts is influenced by national characteristics and other factors. We …

Steroid-resistant nephrotic syndrome (SRNS) is a leading cause of end-stage kidney
disease in children. Recent findings from genomic studies suggests that 10–30% of all …

Schimke immuno-osseous dysplasia (SIOD) caused by mutations in SMARCAL1 is an ultra-
rare disease characterized by specific facial features, skeletal dysplasia, and steroid …