dc.contributor.author | Zheng, Chengyun | |
dc.contributor.author | Yalman, Nevin | |
dc.contributor.author | Henter, Jan-Inge | |
dc.contributor.author | Nordenskjold, Magnus | |
dc.contributor.author | Guergey, Aytemiz | |
dc.contributor.author | al-Lamki, Zakia | |
dc.contributor.author | Horne, AnnaCarin | |
dc.contributor.author | Ramme, Kim Goransdotter | |
dc.contributor.author | Rudd, Eva | |
dc.contributor.author | Wali, Yasser | |
dc.date.accessioned | 2021-03-06T11:20:23Z | |
dc.date.available | 2021-03-06T11:20:23Z | |
dc.date.issued | 2008 | |
dc.identifier.citation | Horne A., Ramme K. G. , Rudd E., Zheng C., Wali Y., al-Lamki Z., Guergey A., Yalman N., Nordenskjold M., Henter J., "Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis", BRITISH JOURNAL OF HAEMATOLOGY, cilt.143, ss.75-83, 2008 | |
dc.identifier.issn | 0007-1048 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_ee985676-15e6-4d3c-95e9-52922f387f8a | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/156618 | |
dc.identifier.uri | https://doi.org/10.1111/j.1365-2141.2008.07315.x | |
dc.description.abstract | Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive lethal condition characterized by fever, cytopenia, hepatosplenomegaly and hemophagocytosis. The hallmark of FHL is defect apoptosis triggering and lymphocyte cellular cytotoxicity. Thus far three disease-causing genes (PRF1, UNC13D, STX11) have been identified. We performed a genotype-phenotype study in a large, multi-ethnic cohort of 76 FHL patients originating from 65 unrelated families. Biallelic mutations in PRF1, UNC13D and STX11 were demonstrated in 13/74 (18%), 6/61 (10%) and 14/70 (20%) patients, respectively. In 27/60 (45%) patients analyzed for all three genes, no molecular diagnosis was established. STX11 mutations were most common in Turkish families (7/28, 25%), whereas in Middle East families, PRF1 mutations were most frequent (6/13, 46%). No biallelic mutation was identified in most families of Nordic origin (13/14, 93%). Patients carrying PRF1 mutations had higher risk of early onset (age < 6 months) compared to patients carrying STX11 mutations [adjusted odds ratio 8.23 (95% confidence interval [CI] = 1.20-56.40), P = 0.032]. Moreover, patients without identified mutations had increased risk of pathological cerebrospinal fluid (CSF) at diagnosis compared to patients with STX11 mutations [adjusted odds ratio 26.37 (CI = 1.90-366.82), P = 0.015]. These results indicate that the disease-causing mutations in FHL have different phenotypes with regard to ethnic origin, age at onset, and pathological CSF at diagnosis. | |
dc.language.iso | eng | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | HEMATOLOJİ | |
dc.subject | Klinik Tıp | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | İç Hastalıkları | |
dc.subject | Hematoloji | |
dc.title | Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis | |
dc.type | Makale | |
dc.relation.journal | BRITISH JOURNAL OF HAEMATOLOGY | |
dc.contributor.department | Karolinska Institutet (Karolinska Institute) , , | |
dc.identifier.volume | 143 | |
dc.identifier.issue | 1 | |
dc.identifier.startpage | 75 | |
dc.identifier.endpage | 83 | |
dc.contributor.firstauthorID | 189910 | |