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JAGN1 (Jagunal-homolog1) is a ER-resident transmembrane protein which is part of the early secretory pathway and granulocyte colony-stimulating factor receptor mediated signaling. Autosomal recessively inherited variants in the JAGN1 gene lead to congenital neutropenia, early-onset bacterial infections, aphthosis and skin abscesses due to aberrant differentiation and maturation of neutrophils. In addition, bone metabolism disorders and a syndromic phenotype, including facial features, short stature and neurodevelopmental delay, have been reported in affected patients.
View Article and Find Full Text PDFEvaluation of QuantiFERON-TB Gold for the Diagnosis of Infection in HTLV-1-Infected Patients.
Viruses
November 2024
Laboratório Avançado de Saúde Pública, Instituto Gonçalo Moniz, Fundação Oswaldo Cruz (Fiocruz-BA), Salvador 40296-710, Bahia, Brazil.
Human T-cell leukemia virus type 1 (HTLV-1) is associated with an increased risk of tuberculosis (TB). This study aimed to evaluate the performance of the QuantiFERON-TB Gold (QFT) test for the diagnosis of (MTB) infection in HTLV-1-infected individuals. HTLV-1-infected participants were divided into four groups: HTLV-1-infected individuals with a history of tuberculosis (HTLV/TB), individuals with positive HTLV and tuberculin skin tests (HTLV/TST+) or negative TST (HTLV/TST-), and HTLV-1-negative individuals with positive TST results (HN/TST+).
View Article and Find Full Text PDFIncidence and impact of other malignancies after immunochemotherapy by fludarabine, cyclophosphamide, and rituximab as frontline treatment for chronic lymphocytic leukemia: A single-center retrospective study.
Clin Hematol Int
January 2025
Service d'Hématologie Clinique et Thérapie Cellulaire Hôpital Saint-Antoine.
Individuals with chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL) have a high risk of developing other malignancies (OMs). The development of OMs may be associated with the advanced age of CLL/SLL patients, presence of a tumor-promoting microenvironment, immune alterations inherent to CLL/SLL, or chemotherapy. Importantly, the occurrence of OMs following frontline fludarabine, cyclophosphamide and rituximab (FCR) treatment is associated with a reduction in the overall survival (OS).
View Article and Find Full Text PDFA Case of Chronic Myelomonocytic Leukemia With Recurrent Skin Involvement.
Cureus
December 2024
Pathology Department, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, TUR.
Article Synopsis
- Chronic myelomonocytic leukemia (CMML) is a complex blood cell disorder that combines poorly functioning and overproducing blood cells, leading to various symptoms.
- The case study focuses on a 71-year-old man with severe CMML who experienced skin nodules that improved with treatment but later recurred, while avoiding progression to acute leukemia.
- The findings emphasize the importance of close monitoring and flexible treatment approaches for patients with CMML, especially those with skin involvement.
Successful Treatment of Primary Acanthamoeba Cutis in a Patient With Chronic Lymphocytic Leukemia on Acalabrutinib.
Am J Dermatopathol
December 2024
Department of Dermatology, Vagelos College of Physician and Surgeons of Columbia University and New York Presbyterian Hospital, New York, NY; and.
Primary cutaneous amoebiasis is rare, and typically affects immunocompromised patients and presents with unique clinical and histopathologic changes. Untreated, the infection could progress to involve the central nervous system, which is almost universally fatal. We present a case of primary cutaneous acanthamoebiasis in a patient with chronic lymphocytic leukemia on acalabrutinib.
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