Search results for "Histiocytosis"

Case report : partial uniparental disomy unmasks a novel recessive mutation in the LYST gene in a patient with a severe phenotype of Chediak-Higashi …

2021

Síndrome de Chédiak-Higashi; LYST; Disomia uniparental Síndrome de Chédiak-Higashi; LYST; Disomía uniparental Chédiak-Higashi syndrome; LYST; Uniparental disomy Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecul…

Canine pancytopoenia and hemophagocytic lymphohistiocytosis

2018

Hematological immune related adverse events after treatment with immune checkpoint inhibitors

2021

Abstract Introduction With the increasing use of checkpoint inhibitors, rare immune-related adverse events (irAE) are being identified. Haematological irAE (hem-irAE) are difficult to treat and have shown high mortality rates. In order to improve side-effect management for these potentially life-threatening events, we analysed frequency, severity and outcomes. Patients and methods Patients who developed hem-irAE while being treated with immune checkpoint inhibitors (ICI) therapy were retrospectively identified from 18 international cancer centres. Results In total, more than 7626 patients treated with ICI were screened, and 50 patients with hem-irAE identified. The calculated incidence amou…

Bone marrow biopsy in hemophagocytic syndrome.

2002

Abstract Aims. Hemophagocytic syndrome (HPS) is a severe and acute clinical event occurring with fever, hepatosplenomegaly, and pancytopenia due to uncontrolled phagocytosis of blood cells and precursors. Although HPS represents a secondary phenomenon, it can mask the underlying condition, generally a neoplastic or infective disease, thus making the patient management rather difficult. The aims of this study were to point out the main pathological features useful to highlight the primary disease and show the eventual discrepancies among the different cases. Methods and results. Bone-marrow biopsies (BMBs) of 26 patients with HPS were morphologically and immunophenotypically evaluated; the p…

Macrophage Activation Syndrome in Patients Affected by Adult-onset Still Disease: Analysis of Survival Rates and Predictive Factors in the Gruppo Ita…

2018

Objective.Macrophage activation syndrome (MAS) is a reactive form of hemophagocytic lymphohistiocytosis, which can complicate adult-onset Still disease (AOSD). We investigated AOSD clinical features at the time of diagnosis, to assess predictors of MAS occurrence. Further, we analyzed the outcomes of patients with AOSD who experience MAS.Methods.Patients with AOSD admitted to any Gruppo Italiano di Ricerca in Reumatologia Clinica e Sperimentale center were retrospectively analyzed for features typical of AOSD, MAS occurrence, and their survival rate.Results.Of 119 patients with AOSD, 17 experienced MAS (12 at admission and 5 during followup). Twelve patients with MAS at first admission diff…

Clinical and immunohistochemical evaluation of the vulvar Langerhans cell histiocytosis.

2008

:  We present the case of a woman with diabetes insipidus with subsequent genital and multiorgan Langerhans cell histiocytosis (LCH). A monolateral and slightly infiltrated erythematous plaque of the vulva was observed. Hematoxylin and eosin and immunophenotypic studies were performed. The primary antibodies used were monoclonal antibody to S100, CD1a, CD34, HLA-DR, PCNA, CD45Ro, CD40, and langerin. The histology of the infiltrates revealed a granulomatous reaction pattern, with extensive aggregates of histiocyte proliferation. The histiocytes, morphologically characterized by a pale staining of cytoplasm surrounding a grooved reniform nucleus, sometimes contained small distinct nucleoli. L…

Hereditary Progressive Mucinous Histiocytosis in Women

1988

We describe three female patients in a family of two generations, who suffered from generalized and maximally pea-sized histiocytic tumors beginning in early adolescence. The disease ran a uniform and slowly progressive course and was confined to the skin. There were no signs of spontaneous tumor regression. Histologic, immunohistochemical, and ultrastructural examination revealed the histiocytic nature of the tumors. An outstanding finding was a marked production of mucinous material, predominantly in long-standing tumors. This nonlangerhansian syndrome differs from other benign normolipemic histiocytic diseases with generalized histiocytic tumors by inheritance, which is most likely autos…

Hereditary Progressive Mucinous Histiocytosis

1994

Background: Hereditary progressive mucinous histiocytosis was first described in 1988. The clinical features of this probably autosomal dominant inherited disease are skin-colored or red pea-sized tumors all over the skin appearing in the first decades of life and increasing gradually in number throughout life. In contrast to other benign histiocytic skin diseases there is no spontaneous tumor resolution. Observation and Results: A 52-year-old woman and her 25-year-old daughter of a further family are reported. Both showed similar longstanding lesions without tumor regression. There was no evidence of visceral involvement. Histologic, immunohistochemical, and ultrastructural examinations re…

Murine Typhus and Hemophagocytic Syndrome

2018

No Abstract

Bone marrow biopsy findings in brucellosis patients with hematologic abnormalities: useful remarks.

2013

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