Results 91 to 100 of about 21,033 (190)

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

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

Heartland Virus and Hemophagocytic Lymphohistiocytosis in Immunocompromised Patient, Missouri, USA [PDF]

, 2018
Heartland virus is a suspected tickborne pathogen in the United States. We describe a case of hemophagocytic lymphohistiocytosis, then death, in an immunosuppressed elderly man in Missouri, USA, who was infected with Heartland ...
Carlson, Abigail L, Buller, Richard S, Staples, J. Erin, J. Erin Staples, George Turabelidze, Byrnes, Kathleen, Pastula, Daniel M, Jesse Keller, Kuhlmann, F. Matthew, Louis Dehner, Nigar Kirmani, Atis Muehlenbachs, F. Matthew Kuhlmann, Lambert, Amy J, Hess, Brian, Charles S. Eby, Gregory A. Storch, Kathleen Byrnes, Dehner, Louis, Eby, Charles S, Keller, Jesse, Abigail L. Carlson, Brian Hess, Turabelidze, George, Kirmani, Nigar, Daniel M. Pastula, Amy J. Lambert, Muehlenbachs, Atis, Richard S. Buller, Storch, Gregory A   +29 more
core   +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

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  

Cerebral Involvement of Hemophagocytic Lymphohistiocytosis in Griscelli Syndrome

, 2019
Type II Griscelli Syndrome (GS) is caused by a mutation in the RAB27A gene and usually manifests with silvery-gray hair, immune deficiency and the development of hemophagocytic lymphohistiocytosis (HLH).
Ersin Töret, Aksoylar, Serap, Oymak, Yeşim, Tuba Hilkay Karapınar, Yılmaz Ay, Ay, Yılmaz, Yeşim Oymak, Toret, Ersin, Serap Aksoylar, Karapınar, Tuba Hilkay, AY, YILMAZ, karapinar, tubahilkay   +11 more
core   +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