Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH

SIFT: predicting amino acid changes that affect protein function

2003 • 5,952 citations

Human non-synonymous SNPs: server and survey

2002 • 2,270 citations

Amino Acid Difference Formula to Help Explain Protein Evolution

1974 • 2,255 citations

Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis

1999 • 1,212 citations

Munc13-4 Is Essential for Cytolytic Granules Fusion and Is Mutated in a Form of Familial Hemophagocytic Lymphohistiocytosis (FHL3)

2003 • 905 citations

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

2006 • 671 citations

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11

2005 • 552 citations

Hemophagocytic lymphohistiocytosis. Report of 122 children from the International Registry. FHL Study Group of the Histiocyte Society.

1996 • 476 citations

Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11

2009 • 396 citations

Hemophagocytic lymphohistiocytosis (HLH) and related disorders

2009 • 365 citations

Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members

2002 • 244 citations

Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis

2009 • 225 citations

A proportion of patients with lymphoma may harbor mutations of the perforin gene

2005 • 182 citations

Hemophagocytic lymphohistiocytosis due to germline mutations inSH2D1A, the X-linked lymphoproliferative disease gene

2001 • 167 citations

Characteristic Immune Abnormalities in Hemophagocytic Lymphohistiocytosis

1996 • 165 citations

Hemophagocytic lymphohistiocytosis in infancy and childhood

1997 • 148 citations

Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions

2005 • 135 citations

Genotype phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations

2007 • 132 citations

Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis

2005 • 119 citations

Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis

2007 • 113 citations

Mutations of the hemophagocytic lymphohistiocytosis–associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis

2008 • 112 citations

A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis

2005 • 111 citations

Late‐onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations

2007 • 79 citations

Review of hemophagocytic lymphohistiocytosis (HLH) in children with focus on Japanese experiences

2004 • 75 citations

Occurrence of haemophagocytic lymphohistiocytosis at less than 1 year of age: analysis of 96 patients

2005 • 74 citations

Inherited Perforin andFasMutations in a Patient with Autoimmune Lymphoproliferative Syndrome and Lymphoma

2004 • 73 citations

Atypical features of familial hemophagocytic lymphohistiocytosis

2004 • 56 citations

A91V perforin variation in healthy subjects and FHLH patients

2006 • 35 citations

A teenage boy with late onset hemophagocytic lymphohistiocytosis with predominant neurologic disease and perforin deficiency

2007 • 33 citations

Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects

2007 • 27 citations

Chlamydia pneumoniae infection‐related hemophagocytic lymphohistiocytosis and acute encephalitis and poliomyelitis‐like flaccid paralysis

2010 • 15 citations