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A Chinese Girl With LIG4 Syndrome and Hematopoietic Stem Cell Transplantation: A Rare Case Report and Review of the Literature.
Clin Case Rep
December 2024
Department of Anesthesiology Children's Hospital, Zhejiang University School of Medicine Hangzhou China.
LIG4 syndrome is an exceptionally rare primary immune deficiency. It is an autosomal recessive genetic disease, falling within the spectrum of genetic disorders characterized by impaired DNA damage response mechanisms. Common clinical characteristics encompass microcephaly, growth retardation, developmental delays, facial deformities, variable immune deficiencies, pancytopenia, heightened susceptibility to malignant tumors, and significant clinical and cellular radiosensitivity.
View Article and Find Full Text PDFComplications of delayed diagnosis and challenges: successfully managed SPTB gene variant hereditary spherocytosis with hepatocellular jaundice-a case report.
J Med Case Rep
December 2024
Department of Radiology, Addis Ababa University College of Health Science, Addis Ababa, Ethiopia.
Background: Hereditary spherocytosis is a rare genetic disorder of the red blood cell membrane that is characterized by anemia, jaundice, and splenomegaly; however, in the absence of family history and with unusual clinical presentation, the diagnosis might not be made until later in life.
Case Presentation: Here, we present a challenging case of genetically proven hereditary spherocytosis that involves the SPTB gene in a 23-year-old female patient from Ethiopia who had repeated medical visits for episodic jaundice and hepatosplenomegaly, with unusual features of conjugated hyperbilirubinemia, pancytopenia, normal reticulocyte count, and lack of family history, where the delay in diagnosis led to several complications. The patient was successfully managed with simultaneous splenectomy and cholecystectomy.
Diagnosing Primary Hemophagocytic Lymphohistiocytosis in an Adult: A Case Report.
Cureus
November 2024
Department of Hematology and Oncology, Medical College of Wisconsin, Milwaukee, USA.
Primary hemophagocytic lymphohistiocytosis (HLH) is a rare, often fatal immune disorder characterized by an overactivation of the immune system. This disease is more common in children but has been known to occur in the occasional adult. The criteria for diagnosis in children do not correlate well with diagnosis in adults, and the numerous variations of presentation in adults often lead to a delay in diagnosis and treatment initiation.
View Article and Find Full Text PDFCase report: Pediatric patient with severe clinical course of CTLA-4 insufficiency treated with HSCT.
Front Immunol
December 2024
Department of Pediatric Hematology, Oncology and Transplantology, Medical University of Lublin, Lublin, Poland.
Background: Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) insufficiency is a rare disease belonging to inborn errors of immunity. Most cases of patients with CTLA-4 insufficiency are diagnosed in adults, therefore it is not a common problem in the clinical practice of pediatricians. However, it is worth noticing that most cases described in the literature show the first symptoms of the disease before the age of 18, but the phenotypic variability of patients complicates and delays the diagnostic process.
View Article and Find Full Text PDFConstitutional Mosaic Pericentromeric Trisomy 8 in a Female Patient With Aplastic Anemia.
Am J Med Genet A
December 2024
Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Aplastic anemia, characterized by pancytopenia and hypoplastic bone marrow, is associated with various acquired cytogenetic abnormalities, including trisomy 8, in 4%-15% of patients. Constitutional mosaic trisomy 8 notably increases the risks for cytopenia and myeloid malignancies. Duplications near chromosome 8 centromere are associated with developmental delays, autism, and trisomy 8p11.
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