Familial Hemophagocytic Lymphocytosis

Known as: Familial Hemophagocytic Lymphocytoses, Hemophagocytic Histiocytoses, Familial, Hymphohistiocytosis, Primary Hemophagocytic 
A rare, life-threatening disorder usually appearing during the first few months of life. It is caused by abnormalities in the PRF1, UNC13D, and STX11… (More)
National Institutes of Health

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AnemiaAtaxiaAutosomal recessive inheritanceBulging fontanelle
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Broader (1)

Lymphohistiocytosis, Hemophagocytic

Papers overview

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Highly Cited
2005
Highly Cited
2005
Not so different after all: a comparison of methods for detecting amino acid sites under selection.
We consider three approaches for estimating the rates of nonsynonymous and synonymous changes at each site in a sequence… (More)
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Review
2005
Review
2005
Familial and acquired hemophagocytic lymphohistiocytosis.
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition of severe hyperinflammation caused by the uncontrolled… (More)
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Highly Cited
2005
Highly Cited
2005
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.
Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive disorder characterized by hyperactive phagocytes… (More)
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Highly Cited
2003
Highly Cited
2003
Munc13-4 Is Essential for Cytolytic Granules Fusion and Is Mutated in a Form of Familial Hemophagocytic Lymphohistiocytosis (FHL3)
Secretion of cytolytic granules content at the immunological synapse is a highly regulated process essential for lymphocyte… (More)
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Highly Cited
2002
Highly Cited
2002
Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation.
Hemophagocytic lymphohistiocytosis (HLH) comprises familial (primary) hemophagocytic lymphohistiocytosis (FHL) and secondary HLH… (More)
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Highly Cited
2001
Highly Cited
2001
Sensitisation, asthma, and a modified Th2 response in children exposed to cat allergen: a population-based cross-sectional study
BACKGROUND Although asthma is strongly associated with immediate hypersensitivity to indoor allergens, several studies have… (More)
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Highly Cited
1999
Highly Cited
1999
Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, rapidly fatal, autosomal recessive immune disorder characterized by… (More)
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Highly Cited
1991
Highly Cited
1991
Incidence in Sweden and clinical features of familial hemophagocytic lymphohistiocytosis.
We retrospectively studied the incidence of familial hemophagocytic lymphohistiocytosis (FHL) in children during the 16-year… (More)
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Highly Cited
1988
Highly Cited
1988
Giant magnetoresistance of (001)Fe/(001)Cr magnetic superlattices.
We have studied the magnetoresistance of (001)Fe/(001)Cr superlattices prepared by molecularbeam epitaxy. A huge… (More)
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Review
1983
Review
1983
Familial hemophagocytic lymphohistiocytosis
Familial hemophagocytic lymphohistiocytosis (FHL) is probably a genetically transmitted disease affecting infants and very young… (More)
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