Results 31 to 40 of about 13,346 (189)

Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3

Haematologica, 2008
Mutations of UNC13D have been described in patients affected by familial hemophagocytic lymphohistiocytosis (FHL3). The Munc13-4 protein contributes to the priming of the secretory granules.
Alessandra Santoro, Sonia Cannella, Antonino Trizzino, Giuseppa Bruno, Carmen De Fusco, Luigi D. Notarangelo, Daniela Pende, Gillian M. Griffiths, Maurizio Aricò   +8 more
doaj   +1 more source

Misdiagnosis of adult primary hemophagocytic lymphohistiocytosis as NK/T‐cell lymphoma: A case report

eJHaem, 2022
We reported a case of a 19‐year‐old male patient with central nervous system symptoms as the main clinical manifestations, and multiple intracranial and abdominal occupying lesions visualized by imaging examinations, who was initially misdiagnosed as NK ...
Qi Kong, Jingshi Wang, Yanlin Zhang, Junxia Hu, Mingzhu Yu, Lin Wu, Zhao Wang   +6 more
doaj   +1 more source

Scrub Typhus Associated Secondary Hemophagocytic Lymphohistiocytosis in Pediatric Intensive Care Unit

Journal of Nobel Medical College, 2023
Background: Scrub Typhus is febrile illness caused by orientia tsutsugamusi and presents with multiorgan involvement. It can cause multiorgan failure resulting in acute respiratory distress syndrome, acute kidney Injury and hemophagocytic ...
Sandip Kumar Singh, Shishir Jha, Rajnish Mishra, Sajan Kumar Thakur, Suja Gurung, Aliza Bajracharya   +5 more
doaj   +1 more source

Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature 

Journal of Medical Case Reports, 2023
Background Wolman disease is a rare disease caused by the absence of functional liposomal acid lipase due to mutations in LIPA gene. It presents with organomegaly, malabsorption, and adrenal calcifications.
Kosar Asna Ashari, Aileen Azari-Yam, Mohammad Shahrooei, Vahid Ziaee   +3 more
doaj   +1 more source

Senescence-accelerated mice (SAMP1/TA-1) treated repeatedly with lipopolysaccharide develop a condition that resembles hemophagocytic lymphohistiocytosis

Haematologica, 2019
Hemophagocytic lymphohistiocytosis is a life-threatening systemic hyperinflammatory disorder with primary and secondary forms. Primary hemophagocytic lymphohistiocytosis is associated with inherited defects in various genes that affect the immunological ...
Isao Tsuboi, Tomonori Harada, Yoko Hirabayashi, Shin Aizawa   +3 more
doaj   +1 more source

Development and validation of a predictive model for diagnosing EBER-positive lymphoma-associated hemophagocytic lymphohistiocytosis

BMC Cancer
Purpose This study aims to identify distinguishing factors between EBER-positive lymphoma-associated hemophagocytic lymphohistiocytosis and non-neoplastic EBV-associated hemophagocytic lymphohistiocytosis.
Yuhong Yin, Wenzhi Zhang, Lizhen Zhao, Ying Li, Minchun Huang, Yu Han, Xiaoyan Wu   +6 more
doaj   +1 more source

Diffuse large B-cell lymphoma in an adolescent female presenting with Epstein-Barr virus-driven hemophagocytic lymphohistiocytosis: a case report

Journal of Medical Case Reports, 2012
Introduction Hemophagocytic lymphohistiocytosis is characterized by multisystem inflammation, resulting from prolonged and intense activation of macrophages, histiocytes and CD8+ T-cells. Due to its variable presentation and non-specific findings, timely
Altaf Sadaf, Atreaga Grace M, Joshi Avni Y, Rodriguez Vilmarie   +3 more
doaj   +1 more source

Repeated pulmonary nodules as the primary symptom of familial hemophagocytic lymphohistiocytosis in adults: a case report and review

Journal of International Medical Research, 2023
Pulmonary nodules are usually considered to be associated with malignant tumors and benign lesions, such as granuloma, pulmonary lymph nodes, fibrosis, and inflammatory lesions.
Lulu Zhang, Chuanchuan Dong, Qiannan Wu, Yupeng Li, Liting Feng, Yanqing Xing, Yangdou Dong, Le Liu, Xiaohui Li, Rujie Huo, Yanting Dong, Erjing Cheng, Xiaoyan Ge, Tian Xinrui   +13 more
doaj   +1 more source

The Role of Hematopoietic Cell Transplantation in Ataxia‐Telangiectasia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Ataxia‐telangiectasia (A‐T) is a DNA repair disorder characterized by neurodegeneration, immunodeficiency, and cancer predisposition. Hematopoietic cell transplantation (HCT) is an established therapy in related disorders such as Fanconi anemia (FA) and Nijmegen breakage syndrome (NBS), but its role in A‐T is unclear.
Laila Alkhouli, Seth Rotz, Masatoshi Takagi, Richa Sharma   +3 more
wiley   +1 more source

Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases

Haematologica, 2010
Background Familial hemophagocytic lymphohistiocytosis is a genetic disorder of lymphocyte cytotoxicity that usually presents in the first two years of life and has a poor prognosis unless treated by hematopoietic stem cell transplantation.
Jan Rohr, Karin Beutel, Andrea Maul-Pavicic, Thomas Vraetz, Jens Thiel, Klaus Warnatz, Ilka Bondzio, Ute Gross-Wieltsch, Michael Schündeln, Barbara Schütz, Wilhelm Woessmann, Andreas H. Groll, Brigitte Strahm, Julia Pagel, Carsten Speckmann, Gritta Janka, Gillian Griffiths, Klaus Schwarz, Udo zur Stadt, Stephan Ehl   +19 more
doaj   +1 more source