Monogenic Lupus with IgA Nephropathy Caused by Spondyloenchondrodysplasia with Immune Dysregulation
Monogenic Lupus with IgA Nephropathy Caused by Spondyloenchondrodysplasia with Immune Dysregulation
Haseena Sait,H. Gangadharan,3 Authors,S. Phadke
2021 · DOI: 10.1007/s12098-020-03636-x
Indian Journal of Pediatrics · 8 Citations
TLDR
The classic phenotype comprising autoimmune, skeletal, and neurological abnormalities in spondyloenchondrodysplasia with immune dysregulation with a novel variant on Sanger sequencing in an Indian patient is documents and highlights the rare coexistence of IgA nephropathy in monogenic lupus.
