Results 101 to 110 of about 21,085 (234)

Clinicogenetic Characterization of H Syndrome in a South African Child

Pediatric Dermatology, EarlyView.
ABSTRACT H syndrome is a rare autosomal recessive genodermatosis caused by loss‐of‐function SLC29A3 variants, combining hyperpigmented indurated plaques and hypertrichosis with life‐threatening autoinflammation. We report a 5‐year‐old South African girl of first‐cousin parents who presented with hyperinflammation mimicking macrophage activation ...
Tshimogo Tswelopele Sathekge, Claude Bailly   +1 more
wiley   +1 more source

Development and Initial Validation of the Macrophage Activation Syndrome/Primary Hemophagocytic Lymphohistiocytosis Score, a Diagnostic Tool that Differentiates Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome

, 2021
Objective To develop and validate a diagnostic score that assists in discriminating primary hemophagocytic lymphohistiocytosis (pHLH) from macrophage activation syndrome (MAS) related to systemic juvenile idiopathic ...
Micalizzi, Concetta, Horne, AnnaCarin, Cron, Randy Q., Espada, Graciela, Ruperto, Nicolino, Merino, Rosa, Kasapcopur, Ozgur, Anton, Jordi, Alessio, Maria, Lehmberg, Kai, Zeng Huasong, Zeng Huasong, Martini, Alberto, Li, Caifeng, Bovis, Francesca, Shenoi, Susan, Gao, Yi-Jin, Insalaco, Antonella, Sanner, Helga, Astigarraga, Itziar, Davi, Sergio, Ravelli, Angelo, Minoia, Francesca, Chasnyk, Vyacheslav, Nichols, Kim E., Kitoh, Toshiyuki, Jeng, Michael, Weitzman, Sheila   +26 more
core   +1 more source

Treatment-refractory immune checkpoint inhibitor-induced hemophagocytic lymphohistiocytosis in the setting of adjuvant pembrolizumab for resected stage IIC melanoma: a case report

Journal of Medical Case Reports
Background Hemophagocytic lymphohistiocytosis is rare and does not have any distinct clinical features or laboratory abnormalities, whereby a high index of suspicion is required for diagnosis.
Kar Ven Cavan Chow, Kimberley Mui, Stewart Hunt, Chun Loo Gan   +3 more
doaj   +1 more source

Secondary hemophagocytic lymphohistiocytosis in a child with Leptospira infection: A case report

The Turkish Journal of Pediatrics, 2018
Leptospirosis caused by spirochetes of the genus Leptospira in most patients result in very mild illness without jaundice. However, a small portion of patients develop various complications due to the involvement of multiple organ systems ...
Dragana Jevtic, Dragomir Djokic, Danka Redzic, Dragana Aleksic, Miro Parezanovic, Srdjan Pasic   +5 more
doaj   +1 more source

In the Midst of a Cytokine Storm—The Hemophagocytic Syndrome (Hemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome)

Veterinary Clinical Pathology, EarlyView.
ABSTRACT Background Hemophagocytic syndrome (HPS)/hemophagocytic lymphohistiocytosis (HLH) is a life‐threatening hyperinflammatory syndrome characterized by immune dysregulation, cytokine overproduction, hemophagocytosis, cytopenias, and multiorgan dysfunction.
Joanne B. Messick
wiley   +1 more source

Hemophagocytic lymphohistiocytosis presenting in a pediatric patient with near total colonic and small bowel aganglionosis: a case report

Journal of Medical Case Reports, 2017
Background Total colonic and small bowel aganglionosis is a rare condition typically requiring intestinal transplant for long-term survival. There have not been any previously reported cases of near total intestinal aganglionosis complicated by concerns ...
Brittany Badal, Michael J. Wilsey, Sara Karjoo   +2 more
doaj   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2409-2419, November 2026.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Failure of interferon gamma to induce the anti-inflammatory interleukin 18 binding protein in familial hemophagocytosis [PDF]

, 2010
Background: Familial hemophagocytosis (FHL) is a rare disease associated with defects in proteins involved in CD8+ T-cell cytotoxicity. Hyperactivation of immune cells results in a perilous, Th1-driven cytokine storm. We set out to explore the regulation
Nold Marcel F., Claudia A Nold-Petry, Jarisch Andrea, Muhl Heiko, Jarisch, Andrea, Lehrnbecher Thomas, Nold-Petry, Claudia A., Nold, Marcel Friedrich, Andrea Jarisch, Lehrnbecher, Thomas, Pfeilschifter, Josef (Prof. Dr.), Heiko Muhl, Dirk Schwabe, Josef M Pfeilschifter, Pfeilschifter Josef M., Thomas Lehrnbecher, Schwabe Dirk, Nold-Petry Claudia A., Mühl, Heiko, Schwabe, Dirk, Marcel F Nold   +20 more
core   +2 more sources

Prospective Study of Targeted Busulfan–Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Genetic Rare Diseases

European Journal of Haematology, Volume 117, Issue 5, Page 1369-1377, November 2026.
ABSTRACT Objectives Genetic rare diseases (GRDs), including chronic granulomatous disease, familial hemophagocytic lymphohistiocytosis, and congenital neutropenia, often require hematopoietic stem cell transplantation (HSCT) as the only curative option.
Bo Kyung Kim, Kyung Taek Hong, Jung Yoon Choi, Hyun Jin Park, Kyung‐Sang Yu, In‐Jin Jang, Hyoung Jin Kang   +6 more
wiley   +1 more source

Hemophagocytic Lymphohistiocytosis Secondary to Melioidosis in Paediatric Patients: A Case Series [PDF]

Kecheng Wan,* Yingjie Liu,* Yuwen Chen, Song Sun, Hong Liang Department of Paediatrics, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University), Haikou, People’s Republic of China*These authors contributed equally to
Liu Y, Liang H, Sun S, Wan K, Chen Y
core