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http://dx.doi.org/10.1001/jamadermatol.2023.1105 | DOI Listing |
Int Med Case Rep J
January 2025
Department of Neurology, Changhai Hospital, Naval Medical University (Second Military Medical University), Shanghai, People's Republic of China.
Background: Coexistence of autoimmune encephalitis (AE) with multiple autoantibodies is of particular concern because overlying antibodies may cause variation of clinical manifestations. Coexistence of anti-glutamic acid decarboxylase (GAD) and anti-Gamma-aminobutyric acid-α-receptor (GABAAR) antibodies in AE was rare.
Case Presentation: A 44-year-old female patient presented to our hospital due to cognitive decline for 4 years, seizures, slowed speech and depression for 2 months.
Cureus
December 2024
Internal Medicine, Hospital da Senhora da Oliveira, Guimarães, PRT.
Systemic lupus erythematosus (SLE) is a multisystemic connective tissue disease with a wide range of clinical and laboratory manifestations. The diagnosis of SLE is often challenging due to the great variability in its presentation, and treatment should be individualized according to the patient's manifestations and affected organs. We present the clinical case of a 25-year-old female who developed SLE with severe hematological and renal involvement as first manifestations, including hemolytic anemia, thrombocytopenia, and nephrotic syndrome.
View Article and Find Full Text PDFFront Immunol
January 2025
Department of Neurology, The First Affiliated Hospital of Anhui University of Traditional, Chinese Medicine, Hefei, Anhui, China.
Autoimmune polyendocrine syndromes (APS) is a rare group of disorders caused by impaired function of multiple endocrine glands due to disruption of immune tolerance. Of which, type 2 (APS-2) is the most common. Glutamic acid decarboxylase (GAD) is the rate-limiting enzyme for the synthesis of gamma-aminobutyric acid (GABA).
View Article and Find Full Text PDFFront Immunol
January 2025
Department of Ophthalmology, National University Hospital, National University Health System, Singapore, Singapore.
Autoimmune retinopathy (AIR) is a rare, potentially blinding retinal disease that remains a challenging condition to manage when resistant to conventional immune-modulatory approaches. We report clinical and electrophysiological improvement in a 49-year-old patient who underwent an autologous hematopoietic stem cell transplant (aHSCT) for thymoma-associated AIR after experiencing progressive disease despite receiving periocular and systemic steroids, mycophenolate mofetil, baricitinib, tacrolimus, bortezomib, rituximab, plasmapheresis, and intravenous immunoglobulin. The aHSCT had two stages: (i) peripheral blood stem cell harvest following mobilization with cyclophosphamide and granulocyte colony-stimulating factor, and (ii) conditioning regimen with plasmapheresis, rituximab, cyclophosphamide, and anti-thymocyte globulin high-dose therapy, followed by autologous hematopoietic cell infusion of 5.
View Article and Find Full Text PDFBiomedica
December 2024
Facultad de Ciencias de la Salud, Departamento de Medicina, Universidad ICESI, Cali, Colombia; Centro de Investigaciones Clínicas, Fundación Valle del Lili, Cali, Colombia; Servicio de Alergología e Inmunología Pediátrica, Departamento de Pediatría, Fundación Valle del Lili, Cali, Colombia.
Introduction. Inborn errors of immunity are frequently associated with bronchiectasis. The diagnostic performance of these inborn errors has improved because the association of some of these entities with progressive airway damage is better known.
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