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Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype
This report expands upon the available genetic, clinical, autoantibody, immunological, and treatment response information on POIKTMP.
Source: Frontiers in Immunology - February 17, 2023 Category: Allergy & Immunology Source Type: research

P039  Muscle wasting & amp; weakness: a rare presentation of sarcoidosis
Conclusion Symptomatic myopathy is present in only 0.5-2.5% of sarcoidosis patients. This unique case highlights the heterogeneity of this disease and the vital role different diagnostic modalities play in achieving the correct diagnosis. It is also pertinent that the lymphadenopathy, found incidentally via imaging, led to the diagnosis. Although notoriously a diagnosis of exclusion, this case emphasises the importance of considering sarcoidosis even in the absence of respiratory symptoms, a raised ACE or hypercalcaemia.Disclosure C. Tomlinson: None.A. Khan: None.D. Mukerjee: None.N. Bhadauria: None.
Source: Rheumatology - April 26, 2021 Category: Rheumatology Source Type: research