We report on a new patient with deletion of 22q11 associated with hemophagocytic lymphohistiocytosis and a fatal outcome. She had minor facial anomalies and cardiac malformation corresponding to those described in del (22q11) syndrome, normal T and B cell function and NK activity; bone marrow aspira
Glomerular hemophagocytic macrophages in a patient with proteinuria and clinical and laboratory features of hemophagocytic lymphohistiocytosis (HLH)
β Scribed by Ling Cao; William Dean Wallace; Shahrooz Eshaghian; Yuliya Linhares; Victor J. Marder
- Book ID
- 107619350
- Publisher
- Carden Jennings Publishing
- Year
- 2011
- Tongue
- English
- Weight
- 341 KB
- Volume
- 94
- Category
- Article
- ISSN
- 0925-5710
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## Abstract ## Background Recently, point mutations in the Perforin gene on chromosome 10q21 have been described to be the cause of hemophagocytic lymphohistiocytosis (HLH) in a subset of patients. Small deletions, missense, or nonsense mutations were found in both coding exons of the gene. One mu
## Abstract Hemophagocytic lymphohistiocytosis (HLH) is a rare and severe inflammatory disorder marked by abnormal cytotoxic T and natural killer cell activity, resulting in impaired clearance of pathogen, excessive cytokine production, and continued immune system activation. Soluble ILβ2 receptor