Results 61 to 70 of about 13,346 (189)

A Lethal Progressive Neuroinflammation Disguised as MOGAD Revealing a Final Diagnosis of Griscelli Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
Chiara Veredice, Chiara Arpaia, Ilaria Contaldo, Anna Capasso, Donato Rigante   +4 more
wiley   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Presentation of hemophagocytic lymphohistiocytosis due to a novel MUNC 13–4 mutation masked by partial therapeutic immunosuppression

Pediatric Rheumatology Online Journal, 2012
Hemophagocytic lymphohistiocytosis is a potentially fatal disease characterized by excessive macrophage and lymphocyte activity. Patients can be affected following immune activation after an oncologic, autoimmune or infectious trigger. An associated gene
Garrett Jackie P-D, Fung Irene, Rupon Jeremy, Knight Andrea, Mizesko Melissa, Paessler Michelle, Orange Jordan S   +6 more
doaj   +1 more source

An Atypical Skin Presentation of Adult‐Onset Still's Disease With Histological Description: A Case Report

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Adult‐onset Still's disease (AOSD) is an auto inflammatory disorder with a variable clinical presentation, and without a pathognomonic diagnostic test, characterized by high spiking fever, arthralgia/arthritis, a suggestive skin rash, elevated white blood cell count 10 G/L (> 80% neutrophils), elevated ferritin, with glycosylated ferritin < 20%
M. Nordmann, T. Mazza, S. Menzinger, G. Kaya, S. Bogiatzi, S. Vandenberghe‐Dürr, M. Blanchard, J. Stirnemann   +7 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Third Allogeneic Stem Cell Transplantation in Children: A Multicenter Analysis From the Spanish GETH‐TC Pediatric Group

European Journal of Haematology, EarlyView.
ABSTRACT Third allogeneic hematopoietic stem cell transplantation (HSCT3) is rarely performed in pediatric patients and is associated with high toxicity and mortality. Data on outcomes in this setting remain scarce. We conducted a retrospective multicenter study within the Spanish GETH‐TC Pediatric group including 29 children and adolescents who ...
Luisa Sisinni, Sara Vinagre Enríquez, Marta Villalon Herrera, Mercedes Plaza Fornieles, Iván López Torija, Andrea Urtasun Erburu, Laura Alonso García, Alexandra Regueiro García, Maria Trabazo del Castillo, Eduardo J. Bardón‐Cancho, Odelaisy León‐Triana, Carla Miñarro Chacón, José Luís Fuster Soler, Antonio Pérez‐Martínez, Pascual Balsalobre López, Marta Gonzalez‐Vicent, Cristina Díaz de Heredia, on behalf of the GETH‐TC Pediatric Working Group   +17 more
wiley   +1 more source

Prognostic Value of Skin Lesion Characteristics in Subcutaneous Panniculitis‐Like T‐Cell Lymphoma: A Retrospective Cohort Study Assessing the Applicability of T Category of the TNM Classification for Primary Cutaneous Lymphomas Other Than Mycosis Fungoides and Sézary Syndrome

International Journal of Dermatology, EarlyView.
Subcutaneous panniculitis‐like T‐cell lymphoma. Survival outcomes according to the presence of hemophagocytic lymphohistiocytosis (HLH) and T category. Relapse‐free survival was inferior in patients presenting with generalized (T3) skin lesions. Overall survival was poor in patients with HLH. Relapse‐free survival was also reduced in patients with HLH.
Myoung Eun Choi, Joon Min Jung, Soo Hyun Jeon, Chong Hyun Won, Sung Eun Chang, Mi Woo Lee, Woo Jin Lee   +6 more
wiley   +1 more source

Secondary hemophagocytic lymphohistiocytosis in children with brucellosis: report of three cases

Journal of Infection in Developing Countries, 2015
Brucellosis is a systemic zoonotic infectious disease that may cause fever, fatigue, sweating, arthritis, hepatosplenomegaly, cytopenia, and lymphadenopathy. It continues to be an important health problem worldwide.
Yöntem Yaman, Salih Gözmen, Ahmet Kağan Özkaya, Yeşim Oymak, Hurşit Apa, Canan Vergin, İlker Devrim   +6 more
doaj   +1 more source

Incidence and Survival of Hemophagocytic Lymphohistiocytosis Over Two Decades: A Population‐Based Study

European Journal of Haematology, Volume 117, Issue 1, Page 210-218, July 2026.
ABSTRACT Adult hemophagocytic lymphohistiocytosis (HLH) is a rare, life‐threatening syndrome triggered by various conditions. A nationwide study of the incidence and outcomes of HLH in Denmark over 23 years (2000–2023) was performed. Adults (≥ 18 years) with HLH and triggering diseases were identified in the Danish National Patient Registry and/or the ...
Mads Okkels Birk Lorenzen, Martin Jensen, Rasmus Rask Kragh Jørgensen, Paw Jensen, Henrik Frederiksen, Dennis L. Hansen, Daniel El Fassi, Morten Nørgaard Andersen, Tarec Christoffer El‐Galaly   +8 more
wiley   +1 more source

The Underestimated Role of Environmental Factors in the Prevention of Invasive Fungal Disease: Experience From a European Childhood Cancer Centre

Mycoses, Volume 69, Issue 7, July 2026.
ABSTRACT Background Immunocompromised children with hematologic malignancies or undergoing allogeneic haematopoietic stem cell transplantation (HSCT) are at high risk for invasive fungal diseases (IFDs). Reported incidence varies considerably due to heterogeneous diagnostic criteria, antifungal strategies and environmental conditions.
Stefano Malvestiti, Felicia Andresen, Markus Hufnagel, Carsten Speckmann, Brigitte Strahm, Tobias Feuchtinger, Alexander Puzik   +6 more
wiley   +1 more source