A mutation in PIK3CD gene causing pediatric systemic lupus erythematosus
Identifieur interne : 000B34 ( Main/Exploration ); précédent : 000B33; suivant : 000B35A mutation in PIK3CD gene causing pediatric systemic lupus erythematosus
Auteurs : Guo-Min Li ; Hai-Mei Liu ; Wan-Zhen Guan ; Hong Xu ; Bing-Bing Wu ; Jia-Yan Feng [République populaire de Chine] ; Li SunSource :
- Medicine [ 0025-7974 ] ; 2019.
Abstract
Gain of function (GOF) mutations in
We report a patient who was diagnosed with systemic lupus erythematosus (SLE) at a young age and was recently found to carry heterozygous mutations in
Activated PI3Kδ syndrome.
Oral prednisolone and hydroxychloroquine combined with mycophenolate mofetil was given to the patient. He was currently receiving intravenous immunoglobulin per month in association with hydroxychloroquine, low-dose prednisolone, and mycophenolate mofetil.
At present, the level of complement restored to normal, hematuria and proteinuria disappeared, and liver function returned to normal.
SLE may be a novel phenotype of GOF mutation in
Url:
DOI: 10.1097/MD.0000000000015329
PubMed: 31045771
PubMed Central: 6504300
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A mutation in <italic>PIK3CD</italic> gene causing pediatric systemic lupus erythematosus</title><author><name sortKey="Li, Guo Min" sort="Li, Guo Min" uniqKey="Li G" first="Guo-Min" last="Li">Guo-Min Li</name><affiliation><nlm:aff id="aff1">Department of Rheumatology</nlm:aff></affiliation></author><author><name sortKey="Liu, Hai Mei" sort="Liu, Hai Mei" uniqKey="Liu H" first="Hai-Mei" last="Liu">Hai-Mei Liu</name><affiliation><nlm:aff id="aff1">Department of Rheumatology</nlm:aff></affiliation></author><author><name sortKey="Guan, Wan Zhen" sort="Guan, Wan Zhen" uniqKey="Guan W" first="Wan-Zhen" last="Guan">Wan-Zhen Guan</name><affiliation><nlm:aff id="aff1">Department of Rheumatology</nlm:aff></affiliation></author><author><name sortKey="Xu, Hong" sort="Xu, Hong" uniqKey="Xu H" first="Hong" last="Xu">Hong Xu</name><affiliation><nlm:aff id="aff1">Department of Rheumatology</nlm:aff></affiliation></author><author><name sortKey="Wu, Bing Bing" sort="Wu, Bing Bing" uniqKey="Wu B" first="Bing-Bing" last="Wu">Bing-Bing Wu</name><affiliation><nlm:aff id="aff2">Medical Transformation Centre</nlm:aff></affiliation></author><author><name sortKey="Feng, Jia Yan" sort="Feng, Jia Yan" uniqKey="Feng J" first="Jia-Yan" last="Feng">Jia-Yan Feng</name><affiliation wicri:level="1"><nlm:aff id="aff3">Department of Pathology, Children's Hospital of Fudan University, Shanghai, China.</nlm:aff><country xml:lang="fr" wicri:curation="lc">République populaire de Chine</country><wicri:regionArea>Department of Pathology, Children's Hospital of Fudan University, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Sun, Li" sort="Sun, Li" uniqKey="Sun L" first="Li" last="Sun">Li Sun</name><affiliation><nlm:aff id="aff1">Department of Rheumatology</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">31045771</idno><idno type="pmc">6504300</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6504300</idno><idno type="RBID">PMC:6504300</idno><idno type="doi">10.1097/MD.0000000000015329</idno><date when="2019">2019</date><idno type="wicri:Area/Pmc/Corpus">000318</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000318</idno><idno type="wicri:Area/Pmc/Curation">000318</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000318</idno><idno type="wicri:Area/Pmc/Checkpoint">000A57</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000A57</idno><idno type="wicri:Area/Ncbi/Merge">000584</idno><idno type="wicri:Area/Ncbi/Curation">000584</idno><idno type="wicri:Area/Ncbi/Checkpoint">000584</idno><idno type="wicri:doubleKey">0025-7974:2019:Li G:a:mutation:in</idno><idno type="wicri:Area/Main/Merge">000B34</idno><idno type="wicri:Area/Main/Curation">000B34</idno><idno type="wicri:Area/Main/Exploration">000B34</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A mutation in <italic>PIK3CD</italic> gene causing pediatric systemic lupus erythematosus</title><author><name sortKey="Li, Guo Min" sort="Li, Guo Min" uniqKey="Li G" first="Guo-Min" last="Li">Guo-Min Li</name><affiliation><nlm:aff id="aff1">Department of Rheumatology</nlm:aff></affiliation></author><author><name sortKey="Liu, Hai Mei" sort="Liu, Hai Mei" uniqKey="Liu H" first="Hai-Mei" last="Liu">Hai-Mei Liu</name><affiliation><nlm:aff id="aff1">Department of Rheumatology</nlm:aff></affiliation></author><author><name sortKey="Guan, Wan Zhen" sort="Guan, Wan Zhen" uniqKey="Guan W" first="Wan-Zhen" last="Guan">Wan-Zhen Guan</name><affiliation><nlm:aff id="aff1">Department of Rheumatology</nlm:aff></affiliation></author><author><name sortKey="Xu, Hong" sort="Xu, Hong" uniqKey="Xu H" first="Hong" last="Xu">Hong Xu</name><affiliation><nlm:aff id="aff1">Department of Rheumatology</nlm:aff></affiliation></author><author><name sortKey="Wu, Bing Bing" sort="Wu, Bing Bing" uniqKey="Wu B" first="Bing-Bing" last="Wu">Bing-Bing Wu</name><affiliation><nlm:aff id="aff2">Medical Transformation Centre</nlm:aff></affiliation></author><author><name sortKey="Feng, Jia Yan" sort="Feng, Jia Yan" uniqKey="Feng J" first="Jia-Yan" last="Feng">Jia-Yan Feng</name><affiliation wicri:level="1"><nlm:aff id="aff3">Department of Pathology, Children's Hospital of Fudan University, Shanghai, China.</nlm:aff><country xml:lang="fr" wicri:curation="lc">République populaire de Chine</country><wicri:regionArea>Department of Pathology, Children's Hospital of Fudan University, Shanghai</wicri:regionArea><wicri:noRegion>Shanghai</wicri:noRegion></affiliation></author><author><name sortKey="Sun, Li" sort="Sun, Li" uniqKey="Sun L" first="Li" last="Sun">Li Sun</name><affiliation><nlm:aff id="aff1">Department of Rheumatology</nlm:aff></affiliation></author></analytic><series><title level="j">Medicine</title><idno type="ISSN">0025-7974</idno><idno type="eISSN">1536-5964</idno><imprint><date when="2019">2019</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><title>Abstract</title><sec><title>Rationale:</title><p>Gain of function (GOF) mutations in <italic>PIK3CD</italic> gene encoding PI3K p110δ were recently associated with a novel combined immune deficiency characterized by recurrent sinopulmonary infections, CD<sub>4</sub><sup>+</sup> lymphopenia, reduced class-switched memory B cells, lymphadenopathy, cytomegalovirus and/or epstein-Barr virus (EBV) viremia, and EBV-related lymphoma. A subset of affected patients also had elevated serum IgM.</p></sec><sec><title>Patient concerns:</title><p>We report a patient who was diagnosed with systemic lupus erythematosus (SLE) at a young age and was recently found to carry heterozygous mutations in <italic>PIK3CD</italic>. The patient not only presented with recurrent sinopulmonary infections, CD<sub>4</sub><sup>+</sup> lymphopenia, lymphadenopathy, EBV viremia, and elevated serum IgM, but also met classification criteria of SLE based on persistent proteinuria and hematuria, leukopenia and anemia, low level of serum complement, and positive autoantibody for antinuclear antibodies.</p></sec><sec><title>Diagnoses:</title><p>Activated PI3Kδ syndrome.</p></sec><sec><title>Interventions:</title><p>Oral prednisolone and hydroxychloroquine combined with mycophenolate mofetil was given to the patient. He was currently receiving intravenous immunoglobulin per month in association with hydroxychloroquine, low-dose prednisolone, and mycophenolate mofetil.</p></sec><sec><title>Outcomes:</title><p>At present, the level of complement restored to normal, hematuria and proteinuria disappeared, and liver function returned to normal.</p></sec><sec><title>Lessons:</title><p>SLE may be a novel phenotype of GOF mutation in <italic>PI3CKD</italic> gene (GOF PIK3CD).</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Jean, S" uniqKey="Jean S">S Jean</name></author><author><name sortKey="Kiger, Aa" uniqKey="Kiger A">AA Kiger</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fruman, Da" uniqKey="Fruman D">DA Fruman</name></author><author><name sortKey="Rommel, C" uniqKey="Rommel C">C Rommel</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Chiu, H" uniqKey="Chiu H">H 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uniqKey="Sun L" first="Li" last="Sun">Li Sun</name><name sortKey="Wu, Bing Bing" sort="Wu, Bing Bing" uniqKey="Wu B" first="Bing-Bing" last="Wu">Bing-Bing Wu</name><name sortKey="Xu, Hong" sort="Xu, Hong" uniqKey="Xu H" first="Hong" last="Xu">Hong Xu</name></noCountry><country name="République populaire de Chine"><noRegion><name sortKey="Feng, Jia Yan" sort="Feng, Jia Yan" uniqKey="Feng J" first="Jia-Yan" last="Feng">Jia-Yan Feng</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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