Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation
Abstract Homozygous W374X mutation was identified in unrelated 13 patients (6M/7F) from consanguineous families, 62% of which had history of deceased sibling. Haplotype analysis provided evidence for the probable existence of a founder effect. Age at disease onset ranged from 1 day to 5.5 months (me...
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| Veröffentlicht in: | Leukemia research 2010-08, Vol.34 (8), p.1012-1017 |
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| creator | Balta, Gunay Okur, Hamza Unal, Sule Yaralı, Nese Gunes, Adalet Meral Unal, Selma Turker, Meral Guler, Elif Ertem, Mehmet Albayrak, Meryem Patiroglu, Turkan Gurgey, Aytemiz |
| description | Abstract Homozygous W374X mutation was identified in unrelated 13 patients (6M/7F) from consanguineous families, 62% of which had history of deceased sibling. Haplotype analysis provided evidence for the probable existence of a founder effect. Age at disease onset ranged from 1 day to 5.5 months (median 2 months). Hepatic dysfunction was observed in 69%, ascite 62%, hypertriglyceridemia 77%, each hyperferritinemia and hypofibrinogenemia 85%, CNS involvement 46% of patients while birth weights were in normal range. Those with very high ferritin (>20,000 ng/ml) had extremely low fibrinogen levels. Two-thirds of patients receiving HLH protocol died within 20 days of therapy. |
| doi_str_mv | 10.1016/j.leukres.2010.02.002 |
| format | Article |
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Haplotype analysis provided evidence for the probable existence of a founder effect. Age at disease onset ranged from 1 day to 5.5 months (median 2 months). Hepatic dysfunction was observed in 69%, ascite 62%, hypertriglyceridemia 77%, each hyperferritinemia and hypofibrinogenemia 85%, CNS involvement 46% of patients while birth weights were in normal range. Those with very high ferritin (>20,000 ng/ml) had extremely low fibrinogen levels. Two-thirds of patients receiving HLH protocol died within 20 days of therapy.</description><identifier>ISSN: 0145-2126</identifier><identifier>EISSN: 1873-5835</identifier><identifier>DOI: 10.1016/j.leukres.2010.02.002</identifier><identifier>PMID: 20197201</identifier><language>eng</language><publisher>England: Elsevier Ltd</publisher><subject>Clinical implications ; Consanguinity ; Familial hemophagocytic lymphohistiocytosis ; Female ; Ferritins - metabolism ; FHL ; Fibrinogen - metabolism ; Founder effect ; Genotype–phenotype ; Hematology, Oncology and Palliative Medicine ; Homozygote ; Humans ; Infant ; Infant, Newborn ; Lymphohistiocytosis, Hemophagocytic - drug therapy ; Lymphohistiocytosis, Hemophagocytic - genetics ; Lymphohistiocytosis, Hemophagocytic - pathology ; Male ; Mutation - genetics ; Perforin gene ; Prognosis ; W374X mutation</subject><ispartof>Leukemia research, 2010-08, Vol.34 (8), p.1012-1017</ispartof><rights>Elsevier Ltd</rights><rights>2010 Elsevier Ltd</rights><rights>Copyright (c) 2010 Elsevier Ltd. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c451t-9819743f405203d372cf1d20838ce2a0064ecc698f6988ac858e29baea0a8df03</citedby><cites>FETCH-LOGICAL-c451t-9819743f405203d372cf1d20838ce2a0064ecc698f6988ac858e29baea0a8df03</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0145212610000809$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20197201$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Balta, Gunay</creatorcontrib><creatorcontrib>Okur, Hamza</creatorcontrib><creatorcontrib>Unal, Sule</creatorcontrib><creatorcontrib>Yaralı, Nese</creatorcontrib><creatorcontrib>Gunes, Adalet Meral</creatorcontrib><creatorcontrib>Unal, Selma</creatorcontrib><creatorcontrib>Turker, Meral</creatorcontrib><creatorcontrib>Guler, Elif</creatorcontrib><creatorcontrib>Ertem, Mehmet</creatorcontrib><creatorcontrib>Albayrak, Meryem</creatorcontrib><creatorcontrib>Patiroglu, Turkan</creatorcontrib><creatorcontrib>Gurgey, Aytemiz</creatorcontrib><title>Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation</title><title>Leukemia research</title><addtitle>Leuk Res</addtitle><description>Abstract Homozygous W374X mutation was identified in unrelated 13 patients (6M/7F) from consanguineous families, 62% of which had history of deceased sibling. Haplotype analysis provided evidence for the probable existence of a founder effect. Age at disease onset ranged from 1 day to 5.5 months (median 2 months). Hepatic dysfunction was observed in 69%, ascite 62%, hypertriglyceridemia 77%, each hyperferritinemia and hypofibrinogenemia 85%, CNS involvement 46% of patients while birth weights were in normal range. Those with very high ferritin (>20,000 ng/ml) had extremely low fibrinogen levels. Two-thirds of patients receiving HLH protocol died within 20 days of therapy.</description><subject>Clinical implications</subject><subject>Consanguinity</subject><subject>Familial hemophagocytic lymphohistiocytosis</subject><subject>Female</subject><subject>Ferritins - metabolism</subject><subject>FHL</subject><subject>Fibrinogen - metabolism</subject><subject>Founder effect</subject><subject>Genotype–phenotype</subject><subject>Hematology, Oncology and Palliative Medicine</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Lymphohistiocytosis, Hemophagocytic - drug therapy</subject><subject>Lymphohistiocytosis, Hemophagocytic - genetics</subject><subject>Lymphohistiocytosis, Hemophagocytic - pathology</subject><subject>Male</subject><subject>Mutation - genetics</subject><subject>Perforin gene</subject><subject>Prognosis</subject><subject>W374X mutation</subject><issn>0145-2126</issn><issn>1873-5835</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFks-O1DAMxisEYpeFRwDlxmkGJ2lm0gtoteKftBIHQHCLMqm7zWzblLgFlUfgqfFoZjlw2UMcyfp9tuXPRfFcwlqC3LzarzucbzPSWgHnQK0B1IPiXNqtXhmrzcPiHGRpVkqqzVnxhGgPAKaS1ePijCXVlsN58eeSCIl6HCaRGhG6OMTgO-GHWnR-l7KfUl7EyI0Y8VNMAx3Axvexiwy22Kex9TcpLFMMolv6sU1tJCY5kyiSGFnGYhK_4tSKNvXp93KTZhLf9Lb8Lvr5WPdp8ajxHeGz039RfH339svVh9X1p_cfry6vV6E0clpVlmcvdVOCUaBrvVWhkbUCq21A5QE2JYawqWzDz_pgjUVV7Tx68LZuQF8UL491x5x-zEiT6yMF7Do_IE_ltqY0utLK3k9qrSotjWLSHMmQE1HGxo059j4vToI7-OX27uSXO_jlQDn2i3UvTh3mXY_1P9WdQQy8OQLIG_kZMTsKvMyAdcwYJleneG-L1_9VuDP5FhekfZrzwOt20hEL3OfD0RxuRvK5gIVK_wW4GcGr</recordid><startdate>20100801</startdate><enddate>20100801</enddate><creator>Balta, Gunay</creator><creator>Okur, Hamza</creator><creator>Unal, Sule</creator><creator>Yaralı, Nese</creator><creator>Gunes, Adalet Meral</creator><creator>Unal, Selma</creator><creator>Turker, Meral</creator><creator>Guler, Elif</creator><creator>Ertem, Mehmet</creator><creator>Albayrak, Meryem</creator><creator>Patiroglu, Turkan</creator><creator>Gurgey, Aytemiz</creator><general>Elsevier Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>7T5</scope><scope>H94</scope></search><sort><creationdate>20100801</creationdate><title>Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation</title><author>Balta, Gunay ; Okur, Hamza ; Unal, Sule ; Yaralı, Nese ; Gunes, Adalet Meral ; Unal, Selma ; Turker, Meral ; Guler, Elif ; Ertem, Mehmet ; Albayrak, Meryem ; Patiroglu, Turkan ; Gurgey, Aytemiz</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c451t-9819743f405203d372cf1d20838ce2a0064ecc698f6988ac858e29baea0a8df03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Clinical implications</topic><topic>Consanguinity</topic><topic>Familial hemophagocytic lymphohistiocytosis</topic><topic>Female</topic><topic>Ferritins - metabolism</topic><topic>FHL</topic><topic>Fibrinogen - metabolism</topic><topic>Founder effect</topic><topic>Genotype–phenotype</topic><topic>Hematology, Oncology and Palliative Medicine</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Lymphohistiocytosis, Hemophagocytic - drug therapy</topic><topic>Lymphohistiocytosis, Hemophagocytic - genetics</topic><topic>Lymphohistiocytosis, Hemophagocytic - pathology</topic><topic>Male</topic><topic>Mutation - genetics</topic><topic>Perforin gene</topic><topic>Prognosis</topic><topic>W374X mutation</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Balta, Gunay</creatorcontrib><creatorcontrib>Okur, Hamza</creatorcontrib><creatorcontrib>Unal, Sule</creatorcontrib><creatorcontrib>Yaralı, Nese</creatorcontrib><creatorcontrib>Gunes, Adalet Meral</creatorcontrib><creatorcontrib>Unal, Selma</creatorcontrib><creatorcontrib>Turker, Meral</creatorcontrib><creatorcontrib>Guler, Elif</creatorcontrib><creatorcontrib>Ertem, Mehmet</creatorcontrib><creatorcontrib>Albayrak, Meryem</creatorcontrib><creatorcontrib>Patiroglu, Turkan</creatorcontrib><creatorcontrib>Gurgey, Aytemiz</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><jtitle>Leukemia research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Balta, Gunay</au><au>Okur, Hamza</au><au>Unal, Sule</au><au>Yaralı, Nese</au><au>Gunes, Adalet Meral</au><au>Unal, Selma</au><au>Turker, Meral</au><au>Guler, Elif</au><au>Ertem, Mehmet</au><au>Albayrak, Meryem</au><au>Patiroglu, Turkan</au><au>Gurgey, Aytemiz</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation</atitle><jtitle>Leukemia research</jtitle><addtitle>Leuk Res</addtitle><date>2010-08-01</date><risdate>2010</risdate><volume>34</volume><issue>8</issue><spage>1012</spage><epage>1017</epage><pages>1012-1017</pages><issn>0145-2126</issn><eissn>1873-5835</eissn><abstract>Abstract Homozygous W374X mutation was identified in unrelated 13 patients (6M/7F) from consanguineous families, 62% of which had history of deceased sibling. Haplotype analysis provided evidence for the probable existence of a founder effect. Age at disease onset ranged from 1 day to 5.5 months (median 2 months). Hepatic dysfunction was observed in 69%, ascite 62%, hypertriglyceridemia 77%, each hyperferritinemia and hypofibrinogenemia 85%, CNS involvement 46% of patients while birth weights were in normal range. Those with very high ferritin (>20,000 ng/ml) had extremely low fibrinogen levels. Two-thirds of patients receiving HLH protocol died within 20 days of therapy.</abstract><cop>England</cop><pub>Elsevier Ltd</pub><pmid>20197201</pmid><doi>10.1016/j.leukres.2010.02.002</doi><tpages>6</tpages></addata></record> |
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| subjects | Clinical implications Consanguinity Familial hemophagocytic lymphohistiocytosis Female Ferritins - metabolism FHL Fibrinogen - metabolism Founder effect Genotype–phenotype Hematology, Oncology and Palliative Medicine Homozygote Humans Infant Infant, Newborn Lymphohistiocytosis, Hemophagocytic - drug therapy Lymphohistiocytosis, Hemophagocytic - genetics Lymphohistiocytosis, Hemophagocytic - pathology Male Mutation - genetics Perforin gene Prognosis W374X mutation |
| title | Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation |
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