title: Systemic lupus erythematosus occurring in a patient with Niemann-Pick type B disease.
abstract: Niemann-Pick disease is an inherited lipid storage disorder caused by the deficiency of acid sphingomyelinase, which results in accumulation of sphingomyelin within cells of several organs and consequent tissue damage. The broad clinical spectrum of this disorder may overlap with that of systemic lupus erythematosus, hindering differential diagnosis. Herein, we report the case of a patient affected by Niemann-Pick type B disease intertwined with clinical and serological features of systemic lupus erythematosus. Two novel mutations in the SMPD1 gene were found in compound heterozygosity: p.A36V and IVS2 + 8 T > G.
authors.affiliation: Unit of Internal Medicine, Allergy and Clinical Immunology, Department of Medical Sciences "M. Aresu", University of Cagliari, Italy giuse.murgia@gmail.com.
authors.forename: G
authors.initials: G
authors.lastname: Murgia
authors.affiliation: Unit of Internal Medicine, Allergy and Clinical Immunology, Department of Medical Sciences "M. Aresu", University of Cagliari, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Firinu
authors.affiliation: Unit of Internal Medicine, Allergy and Clinical Immunology, Department of Medical Sciences "M. Aresu", University of Cagliari, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Meleddu
authors.affiliation: Unit of Internal Medicine, Allergy and Clinical Immunology, Department of Medical Sciences "M. Aresu", University of Cagliari, Italy.
authors.forename: M M
authors.initials: MM
authors.lastname: Lorrai
authors.affiliation: Unit of Internal Medicine, Allergy and Clinical Immunology, Department of Medical Sciences "M. Aresu", University of Cagliari, Italy.
authors.forename: P E
authors.initials: PE
authors.lastname: Manconi
authors.affiliation: Unit of Internal Medicine, Allergy and Clinical Immunology, Department of Medical Sciences "M. Aresu", University of Cagliari, Italy.
authors.forename: S R
authors.initials: SR
authors.lastname: Del Giacco
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000150:complications*; D009154:Mutation; D009542:Niemann-Pick Diseases / Q000150:complications* / Q000235:genetics; D010641:Phenotype; D013108:Sphingomyelin Phosphodiesterase / Q000235:genetics*
chemical_list: C543066:SMPD1 protein, human; D013108:Sphingomyelin Phosphodiesterase
keywords: Niemann–Pick; Niemann–Pick type B disease; SMPD1 gene; Systemic lupus erythematosus; autoimmunity; fever; lysosomal storage disorder