Familial hemophagocytic lymphohistiocytosis

Ladisch S et al. (1982) Immunologic and clinical effects of repeated blood exchange in familial erythrophagocytic lymphohistiocytosis.

Dufourcq-Lagelouse R et al. (1999) Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity.

Ohadi M et al. (1999) Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping.

Jabado N et al. (1997) Treatment of familial hemophagocytic lymphohistiocytosis with bone marrow transplantation from HLA genetically nonidentical donors.

Henter JI et al. (1995) Haemophagocytic lymphohistiocytosis: an inherited primary form and a reactive secondary form.

Mache CJ et al. (1994) Familial hemophagocytic lymphohistiocytosis associated with disseminated T-cell lymphoma: a report of two siblings.

Hirst WJ et al. (1994) Haemophagocytic lymphohistiocytosis: experience at two U.K. centres.

Egeler RM et al. (1995) Langerhans cell histiocytosis.

Gross-Kieselstein E et al. (1981) Familial erythrophagocytic lymphohistiocytosis in infancy.

Dürken M et al. (1999) Improved outcome in haemophagocytic lymphohistiocytosis after bone marrow transplantation from related and unrelated donors: a single-centre experience of 12 patients.

Ansbacher LE et al. (1983) Familial erythrophagocytic lymphohistiocytosis: an association with serum lipid abnormalities.

Delaney MM et al. (1984) Familial erythrophagocytic reticulosis. Complete response to combination chemotherapy.

Soffer D et al. (1984) Familial hemophagocytic lymphohistiocytosis in Israel. II. Pathologic findings.

Gencik A et al. (1984) Genetic analysis of familial erythrophagocytic lymphohistiocytosis.

Stark B et al. (1984) Familial hemophagocytic lymphohistiocytosis (FHLH) in Israel. I. Description of 11 patients of Iranian-Iraqi origin and review of the literature.

None () Familial hemophagocytic lymphohistiocytosis.

Cohen A et al. (1980) Association of a lymphocyte purine enzyme deficiency (5'-nucleotidase) with combined immunodeficiency.

MACMAHON HE et al. (1963) FAMILIAL ERYTHROPHAGOCYTIC LYMPHOHISTIOCYTOSIS.

Rudd E et al. (2008) Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.

Lipton JM et al. (2004) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 28-2004. Newborn twins with thrombocytopenia, coagulation defects, and hepatosplenomegaly.

Aricò M et al. (2002) Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression.

Horne A et al. (2008) Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.

Henter JI et al. (2007) HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.

Marrian VJ et al. (1963) Familial histiocytic reticulosis (familial haemophagocytic reticulosis).

Janka GE et al. (2004) Modern management of children with haemophagocytic lymphohistiocytosis.

FRIEDMAN RM et al. (1965) HISTIOCYTIC MEDULLARY RETICULOSIS.

None (1966) Familial reticuloendotheliosis: concurrence of disease in five siblings.

LANDING BH et al. (1961) Thrombocytopenic purpura with histiocytosis of the spleen.

NELSON P et al. (1961) Generalized lymphohistiocytic infiltration. A familial disease not previously described and different from Letterer-Siwe disease and Chediak-Higashi syndrome.

FARQUHAR JW et al. (1958) Familial haemophagocytic reticulosis.

FARQUHAR JW et al. (1952) Familial haemophagocytic reticulosis.

Ericson KG et al. (2003) Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis.

Henter JI et al. (2002) Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation.

Graham GE et al. (2000) Further evidence for genetic heterogeneity in familial hemophagocytic lymphohistiocytosis (FHLH).

Beutel K et al. (2009) Infection of T lymphocytes in Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children of non-Asian origin.

Santoro A et al. (2006) Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis.

Feldmann J et al. (2003) Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

Müller ML et al. (2014) An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2.

Rudd E et al. (2006) Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies.

zur Stadt U et al. (2005) Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.

Cetica V et al. (2010) STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.

Côte M et al. (2009) Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.

zur Stadt U et al. (2009) Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.

Ladisch S et al. (1978) Immunodeficiency in familial erythrophagocytic lymphohistiocytosis.

Sparber-Sauer M et al. (2009) Patients with early relapse of primary hemophagocytic syndromes or with persistent CNS involvement may benefit from immediate hematopoietic stem cell transplantation.

Chiapparini L et al. (2011) Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis.

Trizzino A et al. (2008) Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.

Zur Stadt U et al. (2006) Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.

Molleran Lee S et al. (2004) Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis.

Clementi R et al. (2002) Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations.

Göransdotter Ericson K et al. (2001) Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.

Stepp SE et al. (1999) Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

Bergholz M et al. (1978) [Familial hemophagocytic reticulosis (Farquhar) (author's transl)].

Botha JB et al. (1975) Familial haemophagocytic reticulosis. Report of 2 cases in sibs.

Nespoli L et al. (1991) Familial haemophagocytic lymphohistiocytosis treated with allogeneic bone marrow transplantation.

Henter JI et al. (1991) Hypercytokinemia in familial hemophagocytic lymphohistiocytosis.

Henter JI et al. (1991) Diagnostic guidelines for hemophagocytic lymphohistiocytosis. The FHL Study Group of the Histiocyte Society.

Henter JI et al. (1991) Familial hemophagocytic lymphohistiocytosis. Clinical review based on the findings in seven children.

Henter JI et al. (1991) Incidence in Sweden and clinical features of familial hemophagocytic lymphohistiocytosis.

Kletzel M et al. (1986) Chromosome abnormalities in familial hemophagocytic lymphohistiocytosis.

Martin JJ et al. (1985) Familial erythrophagocytic lymphohistiocytosis. A neuropathologic study.

Newton WA et al. (1973) Histiocytosis: a histologic classification with clinical correlation.

Price DL et al. (1971) Familial lymphohistiocytosis of the nervous system.

Buist NR et al. (1971) Familial haemophagocytic reticulosis in first cousins.

Bell RJ et al. (1968) Familial haemophagocytic reticulosis.

Mozziconacci P et al. (1965) [Familial lymphohistocytosis].

Goodall HB et al. (1965) Familial haemophagocytic reticulosis.