Neutrophil dysfunction in a family with a SAPHO syndrome–like phenotype
Open Access
- 29 September 2008
- journal article
- case report
- Published by Wiley in Arthritis & Rheumatism
- Vol. 58 (10), 3264-3269
- https://doi.org/10.1002/art.23942
Abstract
SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, osteitis) is an inflammatory disorder of the bone, skin, and joints. We describe a family with multiple affected members who segregate a SAPHO syndrome–like phenotype, and we report the results of neutrophil studies and candidate gene analysis. We obtained written informed consent and a family history and reviewed medical records. We collected DNA and sequenced candidate genes, and we performed functional studies on neutrophils isolated from the proband and her mother. The pedigree segregated chronic osteomyelitis and cutaneous inflammation in a pattern that suggested an autosomal‐dominant disorder. No coding sequence mutations were detected in PSTPIP1, PSTPIP2, LPIN2, SH3BP2, or NCF4. Analysis of neutrophil function in the proband, including nitroblue tetrazolium tests, myeloperoxidase assays, neutrophil chemotaxis, and neutrophil chemotaxis assays, revealed no identifiable abnormalities. However, an abnormality in the luminol, but not the isoluminol, respiratory burst assays following stimulation with phorbol myristate acetate (PMA) was detected in neutrophils isolated from the affected proband. Internal oxidant production was also reduced in the proband and her mother when neutrophils were treated with fMLP with or without platelet‐activating factor, PMA alone, or tumor necrosis factor α alone. This family segregates a disorder characterized by chronic inflammation of the skin and bone. Functional differences in neutrophils exist between affected individuals and controls. The biologic significance of this defect remains unknown. Identification of the gene defect will help identify an immunologic pathway that, when dysregulated, causes inflammation of the skin and bone.Keywords
This publication has 9 references indexed in Scilit:
- Autoinflammatory bone disordersCurrent Opinion in Rheumatology, 2007
- Analysis of Neutrophil Polarization and ChemotaxisPublished by Springer Science and Business Media LLC ,2007
- Recent advances in the molecular pathogenesis of hereditary recurrent feversCurrent Opinion in Allergy and Clinical Immunology, 2006
- Conundrums in nosology: Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome and spondylarthritisArthritis Care & Research, 2006
- The combined luminol/isoluminol chemiluminescence method for differentiating between extracellular and intracellular oxidant production by neutrophilsRedox Report, 2006
- Localization of a gene for familial recurrent arthritisArthritis & Rheumatism, 2000
- Respiratory burst in human neutrophilsJournal of Immunological Methods, 1999
- Effect of decaglycerol mono-oleate on chemiluminescence of human neutrophilsLuminescence, 1999
- Flow cytometric measurement of the respiratory burst activity of phagocytes using dihydrorhodamine 123Journal of Immunological Methods, 1991