Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review
Bülent Kara, Zelal Ekinci, Sezgin Şahin, Mesut Güngör, Ayfer Sakarya Güneş, Kübra Öztürk, Amra Adroviç, Ayşe Çefle, Murat İnanç, Ahmet Gül, Özgür Kasapçopur
Topics & Concepts
MedicineShort statureImmune dysregulationPTPN11Exome sequencingSystemic lupus erythematosusPediatricsDermatologyInternal medicinePathologyDiseasePhenotypeKRASChemistryBiochemistryGeneCancerColorectal cancerNeutrophil, Myeloperoxidase and Oxidative Mechanismsinterferon and immune responsesImmunodeficiency and Autoimmune Disorders