Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Familiäre hämophygozytische Lymphohistiozytose 1

Familiäre hämophygozytische Lymphohistiozytose 1 ist eine genetische Erkrankung, deren Locus noch nicht genauer definiert werden konnte. Er liegt auf der Chromosom 9q21.3-q22 und erstreckt sich über einen Bereich von über 20 Megabasen. Mehrere Gene liegen in diesem Bereich. Die Erkrankung ist durch eine Panzytopenie gekennzeichnet, die sowohl auf eine Phagozytose der Blutzellen wie auch auf eine Histiozytose des Knochenmaks zurückzuführen ist.

Gliederung

Familiäre hämophygozytische Lymphohistiozytose
Familiäre hämophygozytische Lymphohistiozytose 1
Familiäre hämophygozytische Lymphohistiozytose 2
Familiäre hämophygozytische Lymphohistiozytose 3
Familiäre hämophygozytische Lymphohistiozytose 4
Familiäre hämophygozytische Lymphohistiozytose 5

Referenzen:

1.

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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.

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

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

external link
23.

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

external link
24.

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

external link
25.

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

external link
26.

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

external link
27.

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

external link
28.

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

external link
29.

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

external link
30.

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

external link
31.

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

external link
32.

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

external link
33.

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

external link
34.

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

external link
35.

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

external link
36.

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

external link
37.

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

external link
38.

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

external link
39.

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

external link
40.

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

external link
41.

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

external link
42.

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

external link
43.

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

external link
44.

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

external link
45.

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

external link
46.

None () Familial hemophagocytic lymphohistiocytosis.

external link
47.

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.

external link
48.

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

external link
49.

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

external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz