Infantile-onset Multisystem Autoimmune Disease type 1(ADMIO, 1) is a rare hereditary autoimmune disorder primarily caused by STAT3 gain-of-function (GOF) mutations. This article presents a case of ADMIO type 1 resulting from a de novo STAT3 GOF mutatio…
BackgroundAPDS is a combined immunodeficiency disorder, characterized by impaired antibody production and lymphoproliferation, with a high risk of malignancy and autoimmunity. The disease may be caused by autosomal dominant gain-of-function variants in…
Persistent inflammation and tissue injury may contribute to post-acute COVID-19 syndrome (PACS). However, direct tissue evidence from mildly-infected individuals sampled long after recovery remains exceptionally limited. Here, we performed post-mortem …
BackgroundX-linked hyper-immunoglobulin M (XHIGM) syndrome is a rare primary immunodeficiency caused by mutations in the CD40 ligand gene (CD40LG), characterized by defective T-cell-dependent B-cell class-switch recombination. Patients typically presen…
De novo CD20-negative Epstein–Barr virus-positive diffuse large B-cell lymphoma, not otherwise specified (EBV+ DLBCL, NOS), is a rare subtype of DLBCL. CD20 loss complicates both diagnosis and treatment by limiting anti-CD20 antibody use and broadening…
Pyruvate kinase deficiency (PKD) is a rare autosomal recessive inherited hemolytic anemia caused by pathogenic variants in the PKLR gene. The disease exhibits marked clinical heterogeneity, ranging from compensated anemia to severe transfusion-dependen…
Bullous pemphigoid (BP) is a chronic autoimmune blistering disease predominantly affecting the elderly, with conventional immunosuppressive treatments often limited by insufficient efficacy and severe adverse effects. Emerging targeted therapies offer …
One phenotype of cerebral cortical encephalitis in myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD) is FLAMES (fluid-attenuated inversion recovery-hyperintense lesions in anti-MOG-associated encephalitis with seizures). FLA…
We describe the case of a young female who presented with apparent human metapneumovirus-associated illness and dehydration, but whose condition rapidly worsened with progression to multiple organ dysfunction syndrome (MODS). Multiple modalities were u…
Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the TRNT1 gene, encoding tRNA nucleotidyltransferase 1, an enzyme essenti…
