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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.

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2.

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

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3.

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

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4.

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6.

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8.

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

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9.

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

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10.

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

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11.

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

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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.

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13.

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

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

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

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

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

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21.

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22.

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23.

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24.

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

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25.

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

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26.

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

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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.

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

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30.

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

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

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32.

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

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

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

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35.

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

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36.

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

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37.

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

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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.

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39.

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40.

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

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41.

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42.

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43.

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44.

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

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45.

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

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46.

None () Familial hemophagocytic lymphohistiocytosis.

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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.

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48.

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

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49.

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Update: 14. August 2020
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