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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis
British Journal of Haematology, Volume 143, No. 1, Year 2008
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Description
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. © 2008 The Authors.
Authors & Co-Authors
Horne, Anna Carin
Sweden, Stockholm
Karolinska Institutet
Sweden, Stockholm
Karolinska Universitetssjukhuset
Zheng, Chengyun
Sweden, Stockholm
Karolinska Institutet
Wali, Y. Ahmed
Oman, Muscat
Sultan Qaboos University
Al-Lamki, Zakia M.N.
Oman, Muscat
Sultan Qaboos University
Gürgey, Aytemiz
Turkey, Ankara
Hacettepe Üniversitesi
Nordenskjöld, Magnus
Sweden, Stockholm
Karolinska Institutet
Henter, Jan Inge
Sweden, Stockholm
Karolinska Institutet
Statistics
Citations: 69
Authors: 7
Affiliations: 5
Identifiers
Doi:
10.1111/j.1365-2141.2008.07315.x
ISSN:
13652141
Research Areas
Cancer
Genetics And Genomics
Study Design
Cohort Study
Case-Control Study