H-Syndrom
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.
Gliederung
Referenzen:
| 1. |
Moynihan LM et. al. (1998) Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness. [^] |
| 2. |
Kismet E et. al. (2005) Sinus histiocytosis with massive lymphadenopathy in three brothers. [^] |
| 3. |
Rossbach HC et. al. (2006) Faisalabad histiocytosis mimics Rosai-Dorfman disease: brothers with lymphadenopathy, intrauterine fractures, short stature, and sensorineural deafness. [^] |
| 4. |
Marina S et. al. () POEMS in childhood. [^] |
| 5. |
Prendiville J et. al. () Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder? [^] |
| 6. |
Molho-Pessach V et. al. (2008) The H syndrome is caused by mutations in the nucleoside transporter hENT3. [^] |
| 7. |
de Pontual L et. al. (2008) Rhinoscleroma: a French national retrospective study of epidemiological and clinical features. [^] |
| 8. |
Hussain K et. al. (2009) Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome. [^] |
| 9. |
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. [^] |
| 10. |
Molho-Pessach V et. al. (2010) The H syndrome: two novel mutations affecting the same amino acid residue of hENT3. [^] |
| 11. |
Morgan NV et. al. (2010) Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. [^] |
| 12. |
Spiegel R et. al. () Expanding the clinical spectrum of SLC29A3 gene defects. [^] |
| 13. |
Avitan-Hersh E et. al. (2011) A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease. [^] |
| 14. |
Jonard L et. al. (2012) Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype. [^] |
| 15. |
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. [^] |
| 16. |
Farooq M et. al. (2012) Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin. [^] |
| 17. |
Campeau PM et. al. (2012) Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. [^] |
| 18. |
None (1994) Histiocytes and histiocytosis. [^] |
| 19. |
Hamadah IR et. al. (2006) Autosomal recessive plasma cell panniculitis with morphea-like clinical manifestation. [^] |
| 20. |
Molho-Pessach V et. al. (2008) The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. [^] |
| 21. |
Colmenero I et. al. (2012) Emperipolesis: an additional common histopathologic finding in H syndrome and Rosai-Dorfman disease. [^] |
