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Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry
TLDR
The clinical syndrome HLH generally results from the combined effects of an exogenous trigger and genetic predisposition, and different weights of exogenous and genetic factors account for the wide disease spectrum that ranges from HLH secondary to severe infection to FHL. Expand
Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity
TLDR
In some inherited human disorders, a defect in selected proteins involved in the cellular cytotoxicity mechanism results in specific clinical syndromes, grouped under the name of familial hemophagocytic lymphohistiocytosis. Expand
Familial Hemophagocytic Lymphohistiocytosis: When Rare Diseases Shed Light on Immune System Functioning
TLDR
Detailed characterization of patients with genetic hemophagocytic lymphohistiocytosis has resulted in improvement in knowledge regarding contribution of individual proteins to the functional machinery of cytotoxic T- and NK-cells, and details how identification of these genotypes has provided valuable information on variant phenotypes. Expand
Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency.
Statistical analysis of individual assignment tests among four cattle breeds using fifteen STR loci.
TLDR
The potential of microsatellites (STR) for determining the breed origin of beef products among cattle breeds present in the market was determined and the posterior probability that the animals of a presumed breed were actually drawn from that breed instead of any another breed was calculated. Expand
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5
TLDR
Current knowledge on the genetic heterogeneity of FHL is expanded and it is suggested that patients with FHL5 may have different results in degranulation assays under different conditions. Expand
Diagnostic implications of genetic copy number variation in epilepsy plus
TLDR
Copy number variations (CNVs) represent a significant genetic risk for several neurodevelopmental disorders including epilepsy, and reanalysis of existing data is essential. Expand
Molecular basis of familial hemophagocytic lymphohistiocytosis
It is now almost 60 years since a Scottish pediatrician, Dr. James Farquhar, noticed the familial recurrence of a disease affecting male and female siblings aged 2 months, causing fever, cytopenia,Expand
Embryonal tumor with abundant neuropil and true rosettes: Morphological, immunohistochemical, ultrastructural and molecular study of a case showing features of medulloepithelioma and areas of
TLDR
Owing to the rarity of embryonal tumor with abundant neuropil and true rosettes, each new case should be recorded to produce a better clinical, pathological and molecular characterization of this lesion. Expand
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome
TLDR
The frequency of MSI was investigated in a series of 34 pediatric gliomas of different grade using a panel of five mononucleotide quasimonomorphic markers, indicating knowledge of the association between TS1-related glial tumors and subtle type A MSI is important for full ascertainment of TS1 patients and appropriate counselling. Expand
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