Das Histiocytose-Lymphadenopathie plus Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen im SLC29A3-Gen ausgelöst wird. Die Erkrankung zeigt viele Facetten, deren gemeinsame Ursache die Histiozytose ist, weshalb inzwischen die Kurzbezeichnung H-Syndrom bevorzugt wird.
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Colmenero I et. al. (2012) Emperipolesis: an additional common histopathologic finding in H syndrome and Rosai-Dorfman disease. ![]() |
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Molho-Pessach V et. al. (2008) The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. ![]() |
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Hamadah IR et. al. (2006) Autosomal recessive plasma cell panniculitis with morphea-like clinical manifestation. ![]() |
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None (1994) Histiocytes and histiocytosis. ![]() |
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Campeau PM et. al. (2012) Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. ![]() |
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Bolze A et. al. (2012) A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant. ![]() |
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Jonard L et. al. (2012) Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype. ![]() |
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Avitan-Hersh E et. al. (2011) A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease. ![]() |
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Spiegel R et. al. () Expanding the clinical spectrum of SLC29A3 gene defects. ![]() |
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Moynihan LM et. al. (1998) Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness. ![]() |
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Molho-Pessach V et. al. (2010) The H syndrome: two novel mutations affecting the same amino acid residue of hENT3. ![]() |
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Cliffe ST et. al. (2009) SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. ![]() |
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Hussain K et. al. (2009) Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome. ![]() |
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de Pontual L et. al. (2008) Rhinoscleroma: a French national retrospective study of epidemiological and clinical features. ![]() |
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Molho-Pessach V et. al. (2008) The H syndrome is caused by mutations in the nucleoside transporter hENT3. ![]() |
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Prendiville J et. al. () Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder? ![]() |
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Marina S et. al. () POEMS in childhood. ![]() |
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Rossbach HC et. al. (2006) Faisalabad histiocytosis mimics Rosai-Dorfman disease: brothers with lymphadenopathy, intrauterine fractures, short stature, and sensorineural deafness. ![]() |
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Kismet E et. al. (2005) Sinus histiocytosis with massive lymphadenopathy in three brothers. ![]() |