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Familial hemophagoc...
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D
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- Meeths, M (author)
- Karolinska Institutet,Karolinska Institute
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- Chiang, SCC (author)
- Karolinska Institute
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- Sabel, Magnus, 1966 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics,University of Gothenburg
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- Entesarian, M (author)
- Karolinska Institute
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- Schlums, H (author)
- Karolinska Institutet,Karolinska Institute
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- Bang, B (author)
- Karolinska Institutet,Karolinska Institute
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- Nordenskjold, E (author)
- Karolinska Institute
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- Bjorklund, C (author)
- Umeå universitet,Pediatrik,Umeå University
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- Jakovljevic, G (author)
- Childrens Clinical Hospital Zagreb
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- Jazbec, J (author)
- Karolinska Institutet,University of Medical Centre Ljubljana
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- Hasle, H (author)
- Karolinska Institutet,Aarhus University Hospital Skejby
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- Holmqvist, Britt-Marie (author)
- Östergötlands Läns Landsting,Linköpings universitet,Pediatrik,Hälsouniversitetet,Barn- och ungdomskliniken i Linköping
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- Rajic, L (author)
- University of Zagreb
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- Pfeifer, Susan, 1948- (author)
- Uppsala universitet,Pediatrik,Barnonkologisk forskning/Pfeifer,Uppsala University
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- Rosthoj, S (author)
- Aarhus University Hospital
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- Sabel, Magnus, 1966 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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- Salmi, TT (author)
- Turku University Hospital
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- Stokland, T (author)
- University Hospital N Norway
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- Winiarski, J (author)
- Karolinska Institute
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- Ljunggren, HG (author)
- Karolinska Institute
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- Fadeel, B (author)
- Karolinska Institute
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- Nordenskjold, M (author)
- Karolinska Institute
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- Henter, JI (author)
- Karolinska Institutet
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- Bryceson, YT (author)
- Karolinska Institutet,Karolinska Institute
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(creator_code:org_t)
- Washington : American Society of Hematology, 2011
- 2011
- English.
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In: Blood. - Washington : American Society of Hematology. - 0006-4971 .- 1528-0020. ; 118:22, s. 5783-5793
- Related links:
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https://gup.ub.gu.se...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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https://urn.kb.se/re...
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https://urn.kb.se/re...
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Abstract
Subject headings
Close
- Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive, often-fatal hyperinflammatory disorder. Mutations in PRF1, UNC13D, STX11, and STXBP2 are causative of FHL2, 3, 4, and 5, respectively. In a majority of suspected FHL patients from Northern Europe, sequencing of exons and splice sites of such genes required for lymphocyte cytotoxicity revealed no or only monoallelic UNC13D mutations. Here, in 21 patients, we describe 2 pathogenic, noncoding aberrations of UNC13D. The first is a point mutation localized in an evolutionarily conserved region of intron 1. This mutation selectively impairs UNC13D transcription in lymphocytes, abolishing Munc13-4 expression. The second is a 253-kb inversion straddling UNC13D, affecting the 3'-end of the transcript and likewise abolishing Munc13-4 expression. Carriership of the intron 1 mutation was found in patients across Europe, whereas carriership of the inversion was limited to Northern Europe. Notably, the latter aberration represents the first description of an autosomal recessive human disease caused by an inversion. These findings implicate an intronic sequence in cell-type specific expression of Munc13-4 and signify variations outside exons and splice sites as a common cause of FHL3. Based on these data, we propose a strategy for targeted sequencing of evolutionary conserved noncoding regions for the diagnosis of primary immunodeficiencies.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
Keyword
- MEDICINE
Publication and Content Type
- ref (subject category)
- art (subject category)
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Blood
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To the university's database
- By the author/editor
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Meeths, M
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Chiang, SCC
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Sabel, Magnus, 1 ...
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Entesarian, M
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Schlums, H
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Bang, B
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show more...
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Nordenskjold, E
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Bjorklund, C
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Jakovljevic, G
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Jazbec, J
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Hasle, H
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Holmqvist, Britt ...
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Rajic, L
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Pfeifer, Susan, ...
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Rosthoj, S
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Salmi, TT
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Stokland, T
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Winiarski, J
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Ljunggren, HG
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Fadeel, B
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Nordenskjold, M
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Henter, JI
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Bryceson, YT
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Pediatrics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Hematology
- Articles in the publication
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Blood
- By the university
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University of Gothenburg
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Uppsala University
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Karolinska Institutet
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Umeå University
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Linköping University