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Hemizygous Moesin (MSN) Gene Deletion in an Adult With Chronic Neutropenia.
Case Reports Immunol
December 2024
Department of Medical Oncology and Hematology, Oncology Institute, Cleveland Clinic Abu Dhabi (CCAD), Abu Dhabi, UAE.
X-linked moesin-associated immunodeficiency (X-MAID) is a recently identified combined immunodeficiency caused by a mutation in the moesin () gene. It is characterized by cytopenias, hypogammaglobulinemia, poor immune response to vaccine antigens, and increased susceptibility to early-life infections. We report a patient with adult-onset neutropenia, lymphopenia, inadequate response to the pneumococcal polysaccharide vaccine (PPSV23), and recurrent bacterial infections associated with a hemizygous deletion.
View Article and Find Full Text PDFUnusual outcome of treatment of thymoma with immunotherapy: case report.
Mediastinum
November 2024
Department of Oncology, Mayo Clinic, Rochester, MN, USA.
Background: Thymoma is a rare mediastinal neoplasm originating from thymic epithelial cells, often associated with paraneoplastic syndromes. These syndromes can manifest as a range of autoimmune disorders, including myasthenia gravis, pure red cell aplasia, and aplastic anemia. Clinical trials involving the use of immune checkpoint inhibitors (ICIs) in thymoma have been complicated by a high incidence of immune-related adverse effects (irAEs).
View Article and Find Full Text PDFIsolated Ophthalmoplegia: An Uncommon Presentation of Anti-glutamic Acid Decarboxylase 65 (Anti-GAD65) Neurological Syndrome.
Cureus
December 2024
Neurology, Tecnológico de Monterrey, Monterrey, MEX.
Isolated ophthalmoplegia as an anti-glutamic acid decarboxylase 65 (anti-GAD65) antibody-associated neurological syndrome is rare. We present a case of a 22-year-old pregnant Hispanic female patient who presented initially with a left oculomotor nerve palsy following an emergency department (ED) visit for migraine headache. Brain imaging was done with no important findings.
View Article and Find Full Text PDFMultifocal Head and Neck Tumor in a Patient With HIV: A Rare Case.
Cureus
December 2024
Internal Medicine, National University of Malaysia, Kuala Lumpur, MYS.
Epstein-Barr virus-associated smooth muscle tumors (EBV-SMTs) are a rare type of tumor occurring exclusively in immunocompromised patients in the setting of HIV/AIDS, post-organ transplant, and congenital immunodeficiency. These tumors require demonstration of EBV DNA on histopathologic studies in order to establish a diagnosis. The overall prognosis is good.
View Article and Find Full Text PDFHemophagocytic lymphohistiocytosis as the initial manifestation of bone marrow failure in a child with a TERC variant telomere biology disorder.
Ther Adv Rare Dis
January 2025
Department of Pediatrics, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru.
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening systemic hyperinflammatory syndrome, rarely associated with bone marrow failure (BMF). Telomere biology disorders (TBD) are caused by inherited defects in telomerase processes and can have heterogeneous presentations including idiopathic pulmonary fibrosis, cirrhosis, and BMF. We report a case of a 10-year-old male from Lima, Peru, who presented with HLH as the initial manifestation of a TBD.
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