Complement factor I deficiency associated with recurrent infections, vasculitis and immune complex glomerulonephritis
Here we report complement factor I deficiency in an 11-y-old girl from a consanguineous Turkish family, who presented with recurrent pyogenic infections, vasculitic eruptions and immune complex glomerulonephritis. A moderately low C3 level together with the clinical picture suggested a deficiency af...
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| Veröffentlicht in: | Scandinavian journal of infectious diseases 2005, Vol.37 (8), p.615-618 |
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| container_title | Scandinavian journal of infectious diseases |
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| creator | Genel, Ferah Sjöholm, Anders G. Skattum, Lillemor Truedsson, Lennart |
| description | Here we report complement factor I deficiency in an 11-y-old girl from a consanguineous Turkish family, who presented with recurrent pyogenic infections, vasculitic eruptions and immune complex glomerulonephritis. A moderately low C3 level together with the clinical picture suggested a deficiency affecting regulation of complement activation. Analysis of haemolytic activity revealed absence of alternative pathway activity and subsequent analysis showed no detectable factor I ( |
| doi_str_mv | 10.1080/00365540510034536 |
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A moderately low C3 level together with the clinical picture suggested a deficiency affecting regulation of complement activation. Analysis of haemolytic activity revealed absence of alternative pathway activity and subsequent analysis showed no detectable factor I (<2%) together with a low level of factor B and a moderately low level of factor H, indicating consumption secondary to the factor I deficiency. Factor I inhibits complement activation beyond C3 by cleavage of C3b in the presence of cofactors. Complement factor I deficiency is frequently associated with recurrent pyogenic infections mainly affecting the upper and lower respiratory tract, or presenting as meningitis or septicaemia, while rheumatic disorders have not been a prominent feature. The patient's sister also suffered from recurrent pyogenic infections and had a low C3 level clearly suggesting the same deficiency.</description><identifier>ISSN: 0036-5548</identifier><identifier>ISSN: 1651-1980</identifier><identifier>EISSN: 1651-1980</identifier><identifier>DOI: 10.1080/00365540510034536</identifier><identifier>PMID: 16138437</identifier><identifier>CODEN: SJIDB7</identifier><language>eng</language><publisher>Basingstoke: Informa UK Ltd</publisher><subject>Adolescent ; Biological and medical sciences ; Child ; Clinical Medicine ; Complement Factor I - deficiency ; Consanguinity ; Female ; Glomerulonephritis ; Glomerulonephritis - complications ; Glomerulonephritis - immunology ; Humans ; Immunodeficiencies ; Immunodeficiencies. Immunoglobulinopathies ; Immunopathology ; Infection - complications ; Infectious Medicine ; Infektionsmedicin ; Klinisk medicin ; Medical and Health Sciences ; Medical sciences ; Medicin och hälsovetenskap ; Nephrology. Urinary tract diseases ; Nephropathies. Renovascular diseases. Renal failure ; Recurrence ; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis ; Turkey ; Vasculitis - complications</subject><ispartof>Scandinavian journal of infectious diseases, 2005, Vol.37 (8), p.615-618</ispartof><rights>2005 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted 2005</rights><rights>2005 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c503t-f01237f5c4ffa9a76386dd346b668924249b76cb7075822bd87109bb13e827263</citedby><cites>FETCH-LOGICAL-c503t-f01237f5c4ffa9a76386dd346b668924249b76cb7075822bd87109bb13e827263</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.tandfonline.com/doi/pdf/10.1080/00365540510034536$$EPDF$$P50$$Ginformaworld$$H</linktopdf><linktohtml>$$Uhttps://www.tandfonline.com/doi/full/10.1080/00365540510034536$$EHTML$$P50$$Ginformaworld$$H</linktohtml><link.rule.ids>230,315,781,785,886,4025,27925,27926,27927,59649,59755,60438,60544,61223,61258,61404,61439</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17005466$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16138437$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://lup.lub.lu.se/record/229496$$DView record from Swedish Publication Index$$Hfree_for_read</backlink></links><search><creatorcontrib>Genel, Ferah</creatorcontrib><creatorcontrib>Sjöholm, Anders G.</creatorcontrib><creatorcontrib>Skattum, Lillemor</creatorcontrib><creatorcontrib>Truedsson, Lennart</creatorcontrib><title>Complement factor I deficiency associated with recurrent infections, vasculitis and immune complex glomerulonephritis</title><title>Scandinavian journal of infectious diseases</title><addtitle>Scand J Infect Dis</addtitle><description>Here we report complement factor I deficiency in an 11-y-old girl from a consanguineous Turkish family, who presented with recurrent pyogenic infections, vasculitic eruptions and immune complex glomerulonephritis. A moderately low C3 level together with the clinical picture suggested a deficiency affecting regulation of complement activation. Analysis of haemolytic activity revealed absence of alternative pathway activity and subsequent analysis showed no detectable factor I (<2%) together with a low level of factor B and a moderately low level of factor H, indicating consumption secondary to the factor I deficiency. Factor I inhibits complement activation beyond C3 by cleavage of C3b in the presence of cofactors. Complement factor I deficiency is frequently associated with recurrent pyogenic infections mainly affecting the upper and lower respiratory tract, or presenting as meningitis or septicaemia, while rheumatic disorders have not been a prominent feature. The patient's sister also suffered from recurrent pyogenic infections and had a low C3 level clearly suggesting the same deficiency.</description><subject>Adolescent</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Clinical Medicine</subject><subject>Complement Factor I - deficiency</subject><subject>Consanguinity</subject><subject>Female</subject><subject>Glomerulonephritis</subject><subject>Glomerulonephritis - complications</subject><subject>Glomerulonephritis - immunology</subject><subject>Humans</subject><subject>Immunodeficiencies</subject><subject>Immunodeficiencies. Immunoglobulinopathies</subject><subject>Immunopathology</subject><subject>Infection - complications</subject><subject>Infectious Medicine</subject><subject>Infektionsmedicin</subject><subject>Klinisk medicin</subject><subject>Medical and Health Sciences</subject><subject>Medical sciences</subject><subject>Medicin och hälsovetenskap</subject><subject>Nephrology. Urinary tract diseases</subject><subject>Nephropathies. Renovascular diseases. Renal failure</subject><subject>Recurrence</subject><subject>Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis</subject><subject>Turkey</subject><subject>Vasculitis - complications</subject><issn>0036-5548</issn><issn>1651-1980</issn><issn>1651-1980</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kc-P1CAcxRujccfVP8CL4aKnrUL52ejFTFbdZBIveiZAwWFDS4XiOP-91BndGJM9fAMJn_ce8JrmOYKvERTwDYSYUUogRXVHKGYPmg1iFLWoF_Bhs1nP2wqIi-ZJzrcQQsIwfNxcIIawIJhvmrKN4xzsaKcFOGWWmMANGKzzxtvJHIHKORqvFjuAg1_2IFlTUlppPzlrFh-nfAV-qGxK8IvPQE0D8ONYJgvMb-uf4FuIo00lxMnO-7RST5tHToVsn53Xy-brh-sv20_t7vPHm-37XWsoxEvrIOowd9QQ51SvOMOCDQMmTDMm-o50pNecGc0hp6Lr9CA4gr3WCFvR8Y7hy2Z38s0HOxct5-RHlY4yKi9DmevoOjJbqWuO42yQRPVEkq5Dsu-hllp1RghCeK9EtXt1sptT_F5sXuTos7EhqMnGkiUTlOJerLnoBJoUc07W_U1GUK7Vyf-qq5oXZ_OiRzvcKc5dVeDlGai_rYJLajI-33EcQkrYavTuxNWGYhrVIaYwyEUdQ0x_RPi-e7z9R763Kix7o5KVt7GkqfZ1zyt-Abs0xvo</recordid><startdate>2005</startdate><enddate>2005</enddate><creator>Genel, Ferah</creator><creator>Sjöholm, Anders G.</creator><creator>Skattum, Lillemor</creator><creator>Truedsson, Lennart</creator><general>Informa UK Ltd</general><general>Taylor & Francis</general><scope>IQODW</scope><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>ADTPV</scope><scope>AOWAS</scope><scope>D95</scope></search><sort><creationdate>2005</creationdate><title>Complement factor I deficiency associated with recurrent infections, vasculitis and immune complex glomerulonephritis</title><author>Genel, Ferah ; Sjöholm, Anders G. ; Skattum, Lillemor ; Truedsson, Lennart</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c503t-f01237f5c4ffa9a76386dd346b668924249b76cb7075822bd87109bb13e827263</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Adolescent</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Clinical Medicine</topic><topic>Complement Factor I - deficiency</topic><topic>Consanguinity</topic><topic>Female</topic><topic>Glomerulonephritis</topic><topic>Glomerulonephritis - complications</topic><topic>Glomerulonephritis - immunology</topic><topic>Humans</topic><topic>Immunodeficiencies</topic><topic>Immunodeficiencies. Immunoglobulinopathies</topic><topic>Immunopathology</topic><topic>Infection - complications</topic><topic>Infectious Medicine</topic><topic>Infektionsmedicin</topic><topic>Klinisk medicin</topic><topic>Medical and Health Sciences</topic><topic>Medical sciences</topic><topic>Medicin och hälsovetenskap</topic><topic>Nephrology. Urinary tract diseases</topic><topic>Nephropathies. Renovascular diseases. Renal failure</topic><topic>Recurrence</topic><topic>Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis</topic><topic>Turkey</topic><topic>Vasculitis - complications</topic><toplevel>online_resources</toplevel><creatorcontrib>Genel, Ferah</creatorcontrib><creatorcontrib>Sjöholm, Anders G.</creatorcontrib><creatorcontrib>Skattum, Lillemor</creatorcontrib><creatorcontrib>Truedsson, Lennart</creatorcontrib><collection>Pascal-Francis</collection><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>SwePub</collection><collection>SwePub Articles</collection><collection>SWEPUB Lunds universitet</collection><jtitle>Scandinavian journal of infectious diseases</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Genel, Ferah</au><au>Sjöholm, Anders G.</au><au>Skattum, Lillemor</au><au>Truedsson, Lennart</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Complement factor I deficiency associated with recurrent infections, vasculitis and immune complex glomerulonephritis</atitle><jtitle>Scandinavian journal of infectious diseases</jtitle><addtitle>Scand J Infect Dis</addtitle><date>2005</date><risdate>2005</risdate><volume>37</volume><issue>8</issue><spage>615</spage><epage>618</epage><pages>615-618</pages><issn>0036-5548</issn><issn>1651-1980</issn><eissn>1651-1980</eissn><coden>SJIDB7</coden><abstract>Here we report complement factor I deficiency in an 11-y-old girl from a consanguineous Turkish family, who presented with recurrent pyogenic infections, vasculitic eruptions and immune complex glomerulonephritis. A moderately low C3 level together with the clinical picture suggested a deficiency affecting regulation of complement activation. Analysis of haemolytic activity revealed absence of alternative pathway activity and subsequent analysis showed no detectable factor I (<2%) together with a low level of factor B and a moderately low level of factor H, indicating consumption secondary to the factor I deficiency. Factor I inhibits complement activation beyond C3 by cleavage of C3b in the presence of cofactors. Complement factor I deficiency is frequently associated with recurrent pyogenic infections mainly affecting the upper and lower respiratory tract, or presenting as meningitis or septicaemia, while rheumatic disorders have not been a prominent feature. The patient's sister also suffered from recurrent pyogenic infections and had a low C3 level clearly suggesting the same deficiency.</abstract><cop>Basingstoke</cop><pub>Informa UK Ltd</pub><pmid>16138437</pmid><doi>10.1080/00365540510034536</doi><tpages>4</tpages></addata></record> |
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| ispartof | Scandinavian journal of infectious diseases, 2005, Vol.37 (8), p.615-618 |
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| subjects | Adolescent Biological and medical sciences Child Clinical Medicine Complement Factor I - deficiency Consanguinity Female Glomerulonephritis Glomerulonephritis - complications Glomerulonephritis - immunology Humans Immunodeficiencies Immunodeficiencies. Immunoglobulinopathies Immunopathology Infection - complications Infectious Medicine Infektionsmedicin Klinisk medicin Medical and Health Sciences Medical sciences Medicin och hälsovetenskap Nephrology. Urinary tract diseases Nephropathies. Renovascular diseases. Renal failure Recurrence Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis Turkey Vasculitis - complications |
| title | Complement factor I deficiency associated with recurrent infections, vasculitis and immune complex glomerulonephritis |
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