Arthritis in children with LRBA deficiency – case report and literature review
Identifieur interne : 000D28 ( Ncbi/Merge ); précédent : 000D27; suivant : 000D29Arthritis in children with LRBA deficiency – case report and literature review
Auteurs : Rotem Semo Oz ; Melissa S. TesherSource :
- Pediatric Rheumatology Online Journal [ 1546-0096 ] ; 2019.
Abstract
Lipopolysaccharide (LPS)-responsive and beige like anchor (LRBA) deficiency is categorized as a subtype of common variable immune deficiency (CVID). A growing number of case reports and cohorts reveal a broad spectrum of clinical manifestations and variable phenotype expression, including immune dysregulation, enteropathy and recurrent infections. The association between rheumatic disease and CVID generally has been well established, arthritis has been less frequently reported and minimal data regarding its clinical features and characteristic in LRBA deficiency has been published. This case report and literature review evaluates the characteristics and features of arthritis in LRBA deficiency patients.
Herein, we describe a unique case of LRBA deficiency first presented with poly articular arthritis. Alongside the report, a literature review focusing on LRBA deficiency, rheumatic disease and arthritis has been conducted. We reviewed 43 publications. Among these, 7 patients were identified with arthritis. Age of first presentation was six weeks to 3 years. Male to female ratio was 4/3. Two patients were diagnosed with polyarticular Juvenile idiopathic arthritis (JIA) and three with oligoarticular JIA. Each patient was found to have different genomic mutation. The treatment was diverse and included corticosteroids, cyclosporine, methotrexate, adalidumab and abatacept.
Joint involvement is variable in LRBA deficiency, hence it should always be kept in mind as a differential diagnosis for a patient with combination of juvenile arthritis and clinically atypical immune dysregulation and / or immunodeficiency.
Url:
DOI: 10.1186/s12969-019-0388-4
PubMed: 31847838
PubMed Central: 6918552
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Arthritis in children with LRBA deficiency – case report and literature review</title>
<author><name sortKey="Semo Oz, Rotem" sort="Semo Oz, Rotem" uniqKey="Semo Oz R" first="Rotem" last="Semo Oz">Rotem Semo Oz</name>
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<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p id="Par1">Lipopolysaccharide (LPS)-responsive and beige like anchor (LRBA) deficiency is categorized as a subtype of common variable immune deficiency (CVID). A growing number of case reports and cohorts reveal a broad spectrum of clinical manifestations and variable phenotype expression, including immune dysregulation, enteropathy and recurrent infections. The association between rheumatic disease and CVID generally has been well established, arthritis has been less frequently reported and minimal data regarding its clinical features and characteristic in LRBA deficiency has been published. This case report and literature review evaluates the characteristics and features of arthritis in LRBA deficiency patients.</p>
</sec>
<sec><title>Case presentation and review results</title>
<p id="Par2">Herein, we describe a unique case of LRBA deficiency first presented with poly articular arthritis. Alongside the report, a literature review focusing on LRBA deficiency, rheumatic disease and arthritis has been conducted. We reviewed 43 publications. Among these, 7 patients were identified with arthritis. Age of first presentation was six weeks to 3 years. Male to female ratio was 4/3. Two patients were diagnosed with polyarticular Juvenile idiopathic arthritis (JIA) and three with oligoarticular JIA. Each patient was found to have different genomic mutation. The treatment was diverse and included corticosteroids, cyclosporine, methotrexate, adalidumab and abatacept.</p>
</sec>
<sec><title>Conclusion</title>
<p id="Par3">Joint involvement is variable in LRBA deficiency, hence it should always be kept in mind as a differential diagnosis for a patient with combination of juvenile arthritis and clinically atypical immune dysregulation and / or immunodeficiency.</p>
</sec>
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</TEI>
<pmc article-type="case-report"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Pediatr Rheumatol Online J</journal-id>
<journal-id journal-id-type="iso-abbrev">Pediatr Rheumatol Online J</journal-id>
<journal-title-group><journal-title>Pediatric Rheumatology Online Journal</journal-title>
</journal-title-group>
<issn pub-type="epub">1546-0096</issn>
<publisher><publisher-name>BioMed Central</publisher-name>
<publisher-loc>London</publisher-loc>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">31847838</article-id>
<article-id pub-id-type="pmc">6918552</article-id>
<article-id pub-id-type="publisher-id">388</article-id>
<article-id pub-id-type="doi">10.1186/s12969-019-0388-4</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Case Report</subject>
</subj-group>
</article-categories>
<title-group><article-title>Arthritis in children with LRBA deficiency – case report and literature review</article-title>
</title-group>
<contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">http://orcid.org/0000-0002-0680-4005</contrib-id>
<name><surname>Semo Oz</surname>
<given-names>Rotem</given-names>
</name>
<address><email>rotem.semooz@uchospitals.edu</email>
</address>
<xref ref-type="aff" rid="Aff1"></xref>
</contrib>
<contrib contrib-type="author"><name><surname>S. Tesher</surname>
<given-names>Melissa</given-names>
</name>
<address><email>mtesher@peds.bsd.uchicago.edu</email>
</address>
<xref ref-type="aff" rid="Aff1"></xref>
</contrib>
<aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 8736 9513</institution-id>
<institution-id institution-id-type="GRID">grid.412578.d</institution-id>
<institution>Section of Pediatric Rheumatology,</institution>
<institution>University of Chicago Medical Center,</institution>
</institution-wrap>
5841 South Maryland Avenue, Room C101, MC, Chicago, IL 5044 USA</aff>
</contrib-group>
<pub-date pub-type="epub"><day>17</day>
<month>12</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>17</day>
<month>12</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="collection"><year>2019</year>
</pub-date>
<volume>17</volume>
<elocation-id>82</elocation-id>
<history><date date-type="received"><day>3</day>
<month>9</month>
<year>2019</year>
</date>
<date date-type="accepted"><day>4</day>
<month>12</month>
<year>2019</year>
</date>
</history>
<permissions><copyright-statement>© The Author(s). 2019</copyright-statement>
<license license-type="OpenAccess"><license-p><bold>Open Access</bold>
This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0/">http://creativecommons.org/licenses/by/4.0/</ext-link>
), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/publicdomain/zero/1.0/">http://creativecommons.org/publicdomain/zero/1.0/</ext-link>
) applies to the data made available in this article, unless otherwise stated.</license-p>
</license>
</permissions>
<abstract id="Abs1"><sec><title>Background</title>
<p id="Par1">Lipopolysaccharide (LPS)-responsive and beige like anchor (LRBA) deficiency is categorized as a subtype of common variable immune deficiency (CVID). A growing number of case reports and cohorts reveal a broad spectrum of clinical manifestations and variable phenotype expression, including immune dysregulation, enteropathy and recurrent infections. The association between rheumatic disease and CVID generally has been well established, arthritis has been less frequently reported and minimal data regarding its clinical features and characteristic in LRBA deficiency has been published. This case report and literature review evaluates the characteristics and features of arthritis in LRBA deficiency patients.</p>
</sec>
<sec><title>Case presentation and review results</title>
<p id="Par2">Herein, we describe a unique case of LRBA deficiency first presented with poly articular arthritis. Alongside the report, a literature review focusing on LRBA deficiency, rheumatic disease and arthritis has been conducted. We reviewed 43 publications. Among these, 7 patients were identified with arthritis. Age of first presentation was six weeks to 3 years. Male to female ratio was 4/3. Two patients were diagnosed with polyarticular Juvenile idiopathic arthritis (JIA) and three with oligoarticular JIA. Each patient was found to have different genomic mutation. The treatment was diverse and included corticosteroids, cyclosporine, methotrexate, adalidumab and abatacept.</p>
</sec>
<sec><title>Conclusion</title>
<p id="Par3">Joint involvement is variable in LRBA deficiency, hence it should always be kept in mind as a differential diagnosis for a patient with combination of juvenile arthritis and clinically atypical immune dysregulation and / or immunodeficiency.</p>
</sec>
</abstract>
<kwd-group xml:lang="en"><title>Keywords</title>
<kwd>LRBA deficiency</kwd>
<kwd>Arthritis</kwd>
<kwd>Juvenile idiopathic arthritis</kwd>
<kwd>Review</kwd>
</kwd-group>
<custom-meta-group><custom-meta><meta-name>issue-copyright-statement</meta-name>
<meta-value>© The Author(s) 2019</meta-value>
</custom-meta>
</custom-meta-group>
</article-meta>
</front>
</pmc>
<affiliations><list></list>
<tree><noCountry><name sortKey="S Tesher, Melissa" sort="S Tesher, Melissa" uniqKey="S Tesher M" first="Melissa" last="S. Tesher">Melissa S. Tesher</name>
<name sortKey="Semo Oz, Rotem" sort="Semo Oz, Rotem" uniqKey="Semo Oz R" first="Rotem" last="Semo Oz">Rotem Semo Oz</name>
</noCountry>
</tree>
</affiliations>
</record>
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