Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0152031 (swollen joints)
 535 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A woman in her early 50s presented with recurrent severe chest infections. Investigations revealed a low white cell count and a diagnosis of autoimmune neutropenia was made. Subsequently, an infiltrating thymic tumour (mitoses only) in the absence of myasthenia gravis was found. She underwent radical surgery. When neutropenic, she complained of painful, swollen joints and soft tissues. She was started on steroids and immunosuppressants and her pain settled. The following year, she had local malignant recurrence confirmed on imaging. She declined chemotherapy or targeted somatostatin and opted for alternative therapies. She developed a microcytic anaemia and commenced erythropoietin. This coincided with the development of a painful expanded rib lesion, hypercalcaemia, and ascites. She remained unwell with periodical flares in disease affecting many different organs and continued to mount a significant immunological response to her thymic tumour, manifesting as biopsy proven graft-versus-host disease involving joints, skin and lungs. This has been a complex clinical case involving multiple specialities, including haematology, oncology, immunology, endocrinology and palliative medicine.
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PMID:An unusual case of malignant thymoma associated graft-versus-host disease. 2185 7