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Severe chronic non-...
Severe chronic non-bacterial osteomyelitis in combination with total MPO deficiency and responsiveness to TNFα inhibition
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- Sundqvist, Martina (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för reumatologi och inflammationsforskning,Institute of Medicine, Department of Rheumatology and Inflammation Research,University of Gothenburg,Univ Gothenburg, Sweden
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- Christenson, Karin (author)
- Gothenburg University,Göteborgs universitet,Institutionen för odontologi,Institute of Odontology,University of Gothenburg,Univ Gothenburg, Sweden
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- Wekell, Per (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics,Sahlgrenska universitetssjukhuset,Sahlgrenska University Hospital,University of Gothenburg,NU-sjukvården,NU Hospital Group,Univ Gothenburg, Sweden; NU Hosp Grp, Sweden; Queen Silv Childrens Hosp, Sweden
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- Björnsdottir, Halla (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för reumatologi och inflammationsforskning,Institute of Medicine, Department of Rheumatology and Inflammation Research,University of Gothenburg,Univ Gothenburg, Sweden
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- Dahlstrand Rudin, Agnes (author)
- Gothenburg University,Göteborgs universitet,Institutionen för odontologi, sektion 3,Institute of Odontology, Section 3,University of Gothenburg,Univ Gothenburg, Sweden
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- Sanchez Klose, Felix Peter, 1989 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för odontologi,Institute of Odontology,University of Gothenburg,Univ Gothenburg, Sweden
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- Kallinich, Tilmann (author)
- Charité Universitätsmedizin Berlin,Charité University Medicine Berlin,Charite Univ Med Berlin, Germany; Deutsch Rheuma Forschungszentrum Julich DRFZ, Germany
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- Welin, Amanda, 1983 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för reumatologi och inflammationsforskning,Institute of Medicine, Department of Rheumatology and Inflammation Research,University of Gothenburg,Linköpings universitet,Linköping University,Avdelningen för inflammation och infektion,Medicinska fakulteten,Univ Gothenburg, Sweden
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- Björkman, Lena, 1965 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för reumatologi och inflammationsforskning,Institute of Medicine, Department of Rheumatology and Inflammation Research,Sahlgrenska universitetssjukhuset,Sahlgrenska University Hospital,University of Gothenburg,Univ Gothenburg, Sweden; Sahlgrens Univ Hosp, Sweden
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- Bylund, Johan, 1975 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för odontologi,Institute of Odontology,University of Gothenburg,Univ Gothenburg, Sweden
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- Karlsson, Anna, 1967 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för reumatologi och inflammationsforskning,Institute of Medicine, Department of Rheumatology and Inflammation Research,Chalmers tekniska högskola,Chalmers University of Technology,University of Gothenburg,Univ Gothenburg, Sweden; Chalmers Univ Technol, Sweden
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- Berg, Stefan, 1959 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics,University of Gothenburg,Sahlgrenska universitetssjukhuset,Sahlgrenska University Hospital,Univ Gothenburg, Sweden; Queen Silv Childrens Hosp, Sweden
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(creator_code:org_t)
- FRONTIERS MEDIA SA, 2023
- 2023
- English.
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In: Frontiers in Immunology. - : FRONTIERS MEDIA SA. - 1664-3224. ; 14
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Abstract
Subject headings
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- We describe a female patient suffering from severe chronic non-bacterial osteomyelitis (CNO) with systemic inflammation and advanced malnutrition and complete deficiency of myeloperoxidase (MPO). CNO is a rare autoinflammatory bone disorder associated with dysregulation of the innate immune system. MPO deficiency is a genetic disorder with partial or complete absence of the phagocyte peroxidase MPO. MPO deficiency has no established clinical phenotype but reports indicate increased susceptibility to infection and chronic inflammation. The patient’s symptoms began at 10 years of age with pain in the thighs, systemic inflammation and malnutrition. She was diagnosed with CNO at 14 years of age. Treatment with nonsteroidal anti-inflammatory drugs, corticosteroids, bisphosphonates or IL1-receptor antagonists (anakinra) did not relieve the symptoms. However, the patient responded instantly and recovered from her clinical symptoms when treated with TNFα blockade (adalimumab). Three years after treatment initiation adalimumab was withdrawn, resulting in rapid symptom recurrence. When reintroducing adalimumab, the patient promptly responded and went into remission. In addition to clinical and laboratory profiles, neutrophil functions (reactive oxygen species, ROS; neutrophil extracellular traps, NETs; degranulation; apoptosis; elastase activity) were investigated both in a highly inflammatory state (without treatment) and in remission (on treatment). At diagnosis, neither IL1β, IL6, nor TNFα was significantly elevated in serum, but since TNFα blockade terminated the inflammatory symptoms, the disease was likely TNFα-driven. All neutrophil parameters were normal both during treatment and treatment withdrawal, except for MPO-dependent intracellular ROS- and NET formation. The role of total MPO deficiency for disease etiology and severity is discussed.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Mikrobiologi inom det medicinska området (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Microbiology in the medical area (hsv//eng)
Keyword
- adalimumab
- autoinflammation
- CNO
- CRMO
- neutrophils
- ROS
- TNFα
- adalimumab
Publication and Content Type
- ref (subject category)
- art (subject category)
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Sundqvist, Marti ...
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Christenson, Kar ...
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Wekell, Per
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Björnsdottir, Ha ...
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Dahlstrand Rudin ...
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Sanchez Klose, F ...
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Kallinich, Tilma ...
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Welin, Amanda, 1 ...
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Björkman, Lena, ...
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Bylund, Johan, 1 ...
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Karlsson, Anna, ...
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Berg, Stefan, 19 ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Rheumatology and ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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Frontiers in Imm ...
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University of Gothenburg
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Chalmers University of Technology
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Linköping University