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Rare Case of Germline GATA2-Deficiency With Merkel Cell Carcinoma and Acute Myeloid Leukemia.
Cancer Rep (Hoboken)
December 2024
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Background: Germline GATA2-deficiency usually manifests as immunodeficiencies and myeloid neoplasms and sometimes with dermatological diseases, including warts, panniculitis, and skin cancers.
Case: We report a 36-year-old woman with germline GATA2-deficiency who developed Merkel cell carcinoma followed by acute myeloid leukemia. Molecular analysis revealed a germline GATA2 S447R variant, not reported from the previous reported case, suggesting a potential association with Merkel cell carcinoma.
GSDMD Mediates Ang II-Induced Hypertensive Nephropathy by Regulating the GATA2/AQP4 Signaling Pathway.
J Inflamm Res
November 2024
The Key Laboratory of Cardiovascular Disease of Wenzhou, Department of Cardiology, the First Affiliated Hospital of Wenzhou Medical University, Zhejiang, People's Republic of China.
Aim: Hypertensive nephropathy is a common complication of hypertension. However, no effective measures are currently available to prevent the progression of renal insufficiency. Gasdermin D (GSDMD) is a crucial mediator of pyroptosis that induces an excessive inflammatory response.
View Article and Find Full Text PDFGATA2 deficiency and hemophagocytic lymphohistiocytosis (HLH): a systematic review of reported cases.
BMC Infect Dis
November 2024
Sina Trauma and Surgery Research Center, Kerman University of Medical Sciences, Kerman, Iran.
Article Synopsis
- GATA2 deficiency is an autosomal dominant condition that increases the risk of severe infections and can lead to hemophagocytic lymphohistiocytosis (HLH), prompting a review of case studies linking the two.
- The systematic review analyzed 15 studies published between 2016 and 2024, including data from 23 patients aged 7 to 57, revealing various genetic mutations and infections contributing to HLH.
- Out of 8 patients who underwent hematopoietic stem cell transplantation (HSCT) for this condition, 6 survived while 2 did not, indicating some potential for successful treatment despite the severity of the disease.
Genetic predisposition to myelodysplastic syndrome: Genetic counseling and transplant implications.
Semin Hematol
December 2024
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD.
Article Synopsis
- * It discusses hereditary conditions affecting platelet production, highlighting genes such as RUNX1, ETV6, and ANKRD26, and explores various genetic syndromes connected to MDS, like GATA2 deficiency and Fanconi anemia.
- * The importance of genetic counseling and personalized treatment options, including hematopoietic cell transplantation, is emphasized to enhance patient care and outcomes in MDS management.
Inherited Predispositions to Myeloid Neoplasms: Pathogenesis and Clinical Implications.
Annu Rev Pathol
October 2024
Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA; email:
Article Synopsis
- Myeloid neoplasms are diseases that affect blood cells and can happen with or without earlier platelet disorders.
- Certain genetic changes can make people more likely to develop these diseases, like acute myeloid leukemia and myelodysplastic syndrome.
- The World Health Organization now classifies these myeloid neoplasms linked to genetic issues as a special group, and the text discusses how to diagnose and manage these conditions.
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