The authors report on the cases of two adult male patients presenting with autoimmune cytopenias associated with malignancies: a case of autoimmune haemolytic anemia occurring after remission of Hodgkin's disease and a case of autoimmune neutropenia in the setting of renal carcinoma. High-dose intravenous immune globulins (IIG) administered after failure of corticosteroid therapy produced a rapid and long-lasting response. These cases illustrate that intravenous immunoglobulins may be helpful in refractory cases of autoimmune cytopenias. The association of IIG and corticosteroid could be synergistic and effective independently of the outcome of the underlying disease. The pathophysiogenic mechanisms and literature are discussed briefly.
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Intern Emerg Med
January 2025
Unit of Internal Medicine and Clinical Oncology "G. Baccelli", Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro Medical School, Bari, Italy.
Inborn errors of immunity (IEI) entail a diverse group of disorders resulting from hereditary or de novo mutations in single genes, leading to immune dysregulation. This study explores the clinical utility of next-generation sequencing (NGS) techniques in diagnosing monogenic immune defects. Eight patients attending the immunodeficiency clinic and with unclassified antibody deficiency were included in the analysis.
View Article and Find Full Text PDFEur J Pediatr
January 2025
Pediatric Hematology and Oncology, Liv Hospital, Gaziantep, Turkey.
Unlabelled: Spondyloenchondrodysplasia (SPENCD) is a rare genetic disorder characterized with skeletal dysplasia, immune dysregulation, and neurological impairment. Patients diagnosed with SPENCD at a single pediatric hematology center were included in the study. The patients' clinical characteristics, symptoms at presentation, imaging and laboratory results, and genetic analysis results were collected retrospectively from their files.
View Article and Find Full Text PDFZ Rheumatol
January 2025
Medizinische Klinik 2, Schwerpunkt Rheumatologie/Klinische Immunologie, Universitätsklinikum Würzburg, Oberdürrbacher Str. 6, 97080, Würzburg, Deutschland.
Neutropenia in rheumatoid arthritis (RA) is a problem that often needs to be addressed. Side effects of basic antirheumatic treatment, infections or substrate deficiencies are common causes; however, T‑cell large granular lymphocytic (T-LGL) leukemia, a mature T‑cell neoplasm, can also lead to autoimmune cytopenia. The T‑LGL leukemia can be associated not only with RA but also with other autoimmune diseases or neoplasms.
View Article and Find Full Text PDFRev Inst Med Trop Sao Paulo
January 2025
Hospital Militar Central, Servicio de Infectología, Bogotá, Colombia.
Immune thrombocytopenia (ITP) is an autoimmune hematological condition characterized by a markedly isolated decrease in platelets without any apparent associated clinical conditions, resulting in bleeding and bruising of the skin, mucous membranes, and major organs. It is often triggered by preceding illness or several immune stimulants such as immunizations, infections, allergic reactions, among others. While uncommon, arthropod bites can trigger acute ITP.
View Article and Find Full Text PDFBiomedica
December 2024
Grupo de Inmunología Celular y Molecular - InmuBo, Universidad El Bosque, Bogotá, D. C., Colombia; Reumatología, Escuela de Medicina, Universidad Militar Nueva Granada, Bogotá, D. C., Colombia; Grupo de Inmunología, Escuela de Medicina, Universidad Militar Nueva Granada, Bogotá, D. C., Colombia; Departamento de Reumatología e Inmunología, Hospital Militar Central, Bogotá, D. C., Colombia.
Inborn errors of immunity are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Some autoimmune diseases, such as autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases, are increasingly recognized as phenotypes of inborn errors of immunity. The objective of this article was to identify red flags or clinical/laboratory markers to suspect inborn errors of immunity in patients with autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases through a systematic literature review.
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