A 78-year-old woman with a history of follicular lymphoma treated with obinutuzumab and bendamustine developed Merkel cell carcinoma (MCC) on her left forearm. After surgical excision, in-transit and lymph node metastases appeared within three weeks. A…
Immune checkpoint inhibitors (ICIs) have been revolutionary in the field of cancer therapeutics. Myositis is a known rheumatic immunotherapy related adverse event with a fatality rate of 26.8% when associated with myasthenia gravis and 51.3% when assoc…
BackgroundVery early onset-inflammatory bowel disease (VEO-IBD) can arise from monogenic defects affecting immune regulation. We report a male child with VEO-IBD caused by a homozygous, loss-of-function IL10RB variant (c.562T>G; p.C188G) that has not b…
BackgroundThe transcription factors signal transducer and activator of transcription 1 and 3 (STAT1 and STAT3) play essential roles in immune and non-immune cell function. The clinical characterization of patients carrying germline gain or loss-of-func…
Mevalonate kinase deficiency (MKD) is an inherited autoinflammatory syndrome resulting from impaired isoprenoid biosynthesis due to biallelic mevalonate kinase (MVK) mutations. This metabolic defect leads to dysregulated innate immunity, particularly e…
This study reports a case of cold agglutinin disease (CAD) secondary to lymphoplasmacytic lymphoma in a patient intolerant to rituximab plus bendamustine and with persistent uncontrolled hemolysis following zanubrutinib therapy. The addition of the com…
BackgroundChronic active Epstein-Barr virus disease (CAEBV) is a systemic, progressive lymphoproliferative disorder caused by the Epstein-Barr virus (EBV) infecting T cells and/or natural killer (NK) cells. It exhibits both inflammatory and clonal prol…
BackgroundThymectomy is one of the main treatments for thymoma associated myasthenia gravis, but there is a risk of acute exacerbation of myasthenia gravis symptoms during the perioperative period of thymoma. Therefore, perioperative management is very…
Autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy (GFAP-A) is a recently identified autoimmune encephalitis. We reported a case of a male in his 50s with autoimmune GFAP-A complicated with Sjogren’s syndrome and recurrent respiratory fai…
BackgroundUNC93B1 is a transmembrane protein essential for regulating toll-like receptors (TLRs). Pathogenic variants in human UNC93B1 have recently been described in a limited number of patients with childhood systemic lupus erythematosus and chilblai…
