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Griscelli syndrome is a rare autosomal recessive disorder characterised by pigmentary dilution of skin and hair, recurrent skin and pulmonary infections, neurological manifestations, and immunodeficiency. We present a four-month-old female child with hypopigmented silvery hair and a history of recurrent hospitalisations for respiratory illness. The child was extensively evaluated for inborn errors of immunity (IEI), and the final diagnosis of type 2 Griscelli syndrome was made only after genetic testing.
View Article and Find Full Text PDFCorrection to: Quantifying the Diagnostic Odyssey Burden Among Persons with Inborn Errors of Immunity.
J Clin Immunol
January 2025
Department of Health Systems & Implementation Science, Virginia Tech Carilion School of Medicine, Roanoke, VA, USA.
Corrigendum: Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4 gain-of-function mutation.
Front Immunol
January 2025
National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
[This corrects the article DOI: 10.3389/fimmu.2024.
View Article and Find Full Text PDFGastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China.
Orphanet J Rare Dis
January 2025
Department of Pediatrics, Guangdong Provincial People's Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, 510080, China.
Background: Hepatic glycogen storage diseases (GSD) are inborn errors of metabolism with abnormal storage or utilization of glycogen, a complex disease with significant genetic heterogeneity and similar clinical manifestations. This study aimed to describe the gastrointestinal symptoms and endoscopic features of hepatic GSD, including types Ia, Ib, III, VI, and IX, to provide evidence for etiology and treatment.
Methods: A national cohort survey questionnaire was distributed to patients diagnosed with GSD type Ia, Ib, III, VI, and IX through genetic testing or their parents in mainland China in May 2022.
The Fas-mediated apoptosis assay: From concept to clinical application.
J Immunol Methods
January 2025
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. Electronic address:
Abnormal lymphocyte homeostasis underly several Inborn Errors of Immunity (IEoI). In vitro assessment of lymphocyte homeostasis is achieved by specific apoptosis assays reflective of specific homeostasis programs and pathways that are mediated through specific proteins. This review discusses those programs, pathways and proteins and describes the development and use of the in vitro Fas-mediated apoptosis assay, as it relates to the IEoI Autoimmune Lymphoproliferative Syndrome (ALPS) and describes other disorders of lymphocyte homeostasis in the context of other forms of in vitro apoptosis assessment.
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