Introduction Leukocyte adhesion deficiency (LAD) type I is a well-recognized inborn error of immunity that typically presents in early childhood. However, cases with normal surface expression of adhesion molecules are rare and suggest that these molecu…
Disorders associated with anti-GQ1b antibodies predominantly encompass Bickerstaff brainstem encephalitis (BBE), Guillain–Barré syndrome (GBS), and Miller Fisher syndrome. Concurrent presentation of BBE, GBS, and acute transverse myelitis is exceptiona…
BackgroundImmune checkpoint inhibitors (ICIs) can cause rare but clinically important immune-related neuromuscular adverse events. Early warning signals for ICI-associated neuromuscular toxicity remain poorly defined, particularly after PD-1 inhibitor …
Relapse after allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the leading cause of treatment failure in acute myeloid leukemia (AML), particularly in genetically adverse subtypes. Although prophylactic donor lymphocyte infusion (DLI) …
IntroductionUreteral wall thickening or a periureteral “sleeve” on imaging often raise concern for malignancy, but rare non-carcinomatous disorder can mimic this presentation. We report radiology and pathology findings of four prototypical cases of ure…
Immune-mediated rippling muscle disease (iRMD) is a rare autoimmune myopathy characterized by mechanically triggered, wave-like skeletal muscle contractions. Its coexistence with myasthenia gravis (MG) has been described, but detailed clinicopathologic…
FLAIR-hyperintense lesions in anti-MOG-associated encephalitis with seizures (FLAMES) represent a rare and distinctive clinico-radiological syndrome. Here, we report the case of a 35-year-old man who presented with sudden-onset generalized tonic-clonic…
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) may be associated with lymphoma, although the underlying relationship between these entities remains unclear. While the diagnosis is centered on sp…
ObjectiveTo report the clinical characteristics, diagnostic process, and therapeutic outcome of a case of atypical ocular toxoplasmosis involving the nasal peripheral retina, and to provide reference for the differential diagnosis of this disease.Metho…
Biallelic mutations in ARPC1B gene are responsible for an inborn error of immunity (IEI) characterized by thrombocytopenia and combined immunodeficiency with heterogeneous immune-dysregulatory features. Sirolimus is a mammalian target of rapamycin (mTO…
