Wiskott–Aldrich syndrome (WAS) is a condition characterized by a low platelet count, eczema, and a weakened immune system. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment option. Haploidentical HSCT with posttransplant cyc…
A case report highlights the challenges faced in managing a 66-year-old Chinese woman diagnosed with anti-MDA5 antibody-positive dermatomyositis (MDA5-DM) complicated by rapidly progressive interstitial lung disease (RP-ILD). Despite aggressive therape…
In 2013, a young woman during her early pregnancy was repeatedly hospitalized due to respiratory and swallowing difficulties. The pregnancy was terminated due to recurrent severe lung infections. She was later diagnosed with myasthenia gravis (MG) base…
Immunodeficiency, centromeric instability, and facial anomalies syndrome (ICF) is a rare genetic disease characterized by hypogammaglobulinemia, T cell immune deficiency with age, pericentromeric hypomethylation, facial abnormalities, and intellectual …
A heterozygous mutation in the PTPN2 gene has recently been described in several patients exhibiting symptoms of immune dysregulation. The gene encodes a ubiquitous non-receptor T-cell protein tyrosine phosphatase that exerts a negative feedback on the…
Immune checkpoint inhibitors (ICIs) are drugs that are being increasingly used in the field of oncology; due to their mechanism of action, they can present immune-related adverse effects (IRAEs), with various clinical manifestations, one of which is de…
Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a systemic necrotizing vasculitis that predominantly affects small vessels. In this report, we present a typical case of granulomatosis with polyangiitis (GPA) complicated by sp…
Sinonasal small-cell neuroendocrine carcinoma (SCNEC) is an uncommon malignant epithelial neuroendocrine tumor in the sinonasal cavity that often presents in isolation and rarely occurs in synchronous fashion with small-cell lung carcinoma (SCLC). Here…
Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency (CID) due to biallelic mutations in the gene encoding DOCK8. Major clinical phenomena are recurrent severe infections of the lungs and skin, atopic eczema, and predisposition …
This case report presents a 57-year-old male with hepatocellular carcinoma who developed Type 1 Diabetes Mellitus (T1DM) and diabetic ketoacidosis (DKA) following treatment with Envafolimab, a PD-L1 immune checkpoint inhibitor. The patient experienced …
