| 1 | HPLH3, UNC13D
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| Defective UNC13D Gene-associated Familial Hemophagocytic Lymphohistiocytosis Triggered by Visceral Leishmaniasis: A Diagnostic Challenge.
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| Balta G, Azik FM, Gurgey A.
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| J Pediatr Hematol Oncol Pediatr Hematol Oncol. 2013 Jun 14. [Epub ahead of print]
2013
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| 2 | HPLH3, UNC13D
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| Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3.
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| Entesarian M, Chiang SC, Schlums H, Meeths M, Chan MY, Mya SN, Soh SY, Nordenskjöld M, Henter JI, Bryceson YT.
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| Br J Haematol 162(3):415-8. doi: 10.1111/bjh.12371. Epub 2013 May 14. No abstract available.
2013
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| 3 | HPLH3, UNC13D
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| A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function.
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| Elstak ED, te Loo M, Tesselaar K, van Kerkhof P, Loeffen J, Grivas D, Hennekam E, Boelens JJ, Hoogerbrugge PM, van der Sluijs P, van Gijn ME, van de Corput L.
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| Pediatr Blood Cancer 58(4):598-605. doi: 10.1002/pbc.23253. Epub 2011 Jul 13.
2012
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| 4 | HPLH2, HPLH3, HPLH5, PRF1, STXBP2, UNC13D
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| Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.
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| Zhang K, Jordan MB, Marsh RA, Johnson JA, Kissell D, Meller J, Villanueva J, Risma KA, Wei Q, Klein PS, Filipovich AH.
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| Blood 118(22):5794-8. doi: 10.1182/blood-2011-07-370148. Epub 2011 Aug 31. 2011
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| 5 | UNC13D, HPLH3
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| Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.
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| Rudd E, Bryceson YT, Zheng C, Edner J, Wood SM, Ramme K, Gavhed S, GŸrgey A, Hellebostad M, Bechensteen AG, Ljunggren HG, Fadeel B, Nordenskjšld M, Henter JI.
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| J Med Genet 45(3):134-41. Epub 2007 Nov 9. 2008
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| 6 | UNC13D, HPLH3
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| Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis.
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| Donn R, Ellison S, Lamb R, Day T, Baildam E, Ramanan AV.
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| Arthritis Rheum 58(3):869-74. 2008
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| 7 | HPLH2, HPLH3, HPLH4, PRF1, STX11, UNC13D
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| Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.
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| Horne A, Ramme KG, Rudd E, Zheng C, Wali Y, al-Lamki Z, Gürgey A, Yalman N, Nordenskjöld M, Henter JI.
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| Br J Haematol 143(1):75-83. Epub 2008 Aug 15.
2008
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| 8 | PRF1, HPLH2, UNC13D, HPLH3, RAB27A, VCIPD2, STX11, HPLH4
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| Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
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| Zur Stadt U, Beutel K, Kolberg S, Schneppenheim R, Kabisch H, Janka G, Hennies HC.
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| Hum Mutat 27(1):62-8. 2006
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| 9 | UNC13D, HPLH3
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| Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes.
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| Yamamoto K, Ishii E, Sako M, Ohga S, Furuno K, Suzuki N, Ueda I, Imayoshi M, Yamamoto S, Morimoto A, Takada H, Hara T, Imashuku S, Sasazuki T, Yasukawa M.
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| J Med Genet 41(10):763-7. 2004
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