Society of Diabetic Nephropathy Prevention Journal of Nephropathology 2251-8363 13 4 2024 08 10 Schimke immuno-osseous dysplasia in a boy with generalized edema; a case report e21481 e21481 10.34172/jnp.2023.21481 EN Paniz Pourpashang https://orcid.org/0000-0003-4469-086X Nasrin Esfandiar https://orcid.org/0000-0001-6721-1206 Samaneh Panjeshahi https://orcid.org/0000-0002-4893-5644 Samin Sharafian Seyed Hamidreza Mirbehbahani https://orcid.org/0000-0002-6126-462X Journal Article 10.34172/jnp.2023.21481 2023 06 21 2023 08 09 Schimke immuno-osseous dysplasia (SIOD) is a rare disease diagnosed by skeletal malformations, steroid-resistant nephrotic syndrome (SRNs), and T-cell immunodeficiency. Proteinuria with focal segmental glomerulosclerosis (FSGS) is the most common renal pathologic finding in SIOD. In this case report, we present an 8-year-old boy with generalized edema, kyphosis, and nephrotic syndrome who was eventually diagnosed with SIOD.