<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>2413-4341</journal-id>
<journal-title><![CDATA[Revista Paraguaya de Reumatología]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. parag. reumatol.]]></abbrev-journal-title>
<issn>2413-4341</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Paraguaya de Reumatología]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2413-43412024000100030</article-id>
<article-id pub-id-type="doi">10.18004/rpr/2024.10.01.30</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[GEN POMP: acerca de su participación en los mecanismos de autoinmunidad e inflamación]]></article-title>
<article-title xml:lang="en"><![CDATA[POMP GENE: Role in mechanisms of autoimmunity and inflammation]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Aparicio-Vera]]></surname>
<given-names><![CDATA[Luis Alberto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[García-Herrera]]></surname>
<given-names><![CDATA[Iris Paola]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital para el Niño Poblano Departamento de Reumatología Pediátriatrica ]]></institution>
<addr-line><![CDATA[Puebla ]]></addr-line>
<country>México</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2024</year>
</pub-date>
<volume>10</volume>
<numero>1</numero>
<fpage>30</fpage>
<lpage>36</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_arttext&amp;pid=S2413-43412024000100030&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_abstract&amp;pid=S2413-43412024000100030&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_pdf&amp;pid=S2413-43412024000100030&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen: En esta revisión abordamos la autoinmunidad, destacando los mecanismos defectuosos en la tolerancia inmunológica y su relación con enfermedades autoinmunes. Nos centramos en la proteína POMP y el sistema ubiquitina-proteosoma, explicando su función en la degradación proteínica y su papel en la formación del inmunoproteosoma. Se detalla la estructura del proteosoma, la ubiquitinización, y se destaca la influencia de POMP en la respuesta inflamatoria, especialmente en la formación del inmunoproteosoma bajo la estimulación del interferón. Además, se explora la implicación de POMP en procesos autoinflamatorios, como los síndromes asociados al proteosoma, y se menciona su relación con enfermedades autoinmunes, incluyendo el lupus eritematoso sistémico. Se describen casos clínicos que resaltan la importancia de POMP en la autoinmunidad.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract: This publication addresses autoimmunity, and defective mechanisms in immunological tolerance as well as their connection to autoimmune diseases. It focuses on the POMP protein and the ubiquitin-proteasome system, explaining its role in protein degradation and its involvement in the formation of the immunoproteasome. The structure of the proteasome, ubiquitination, and the influence of POMP on the inflammatory response are detailed, highlighting the formation of the immunoproteasome under interferon stimulation. Additionally, the text explores the implication of POMP in autoinflammatory processes, such as proteasome-associated syndromes, and mentions its association with autoimmune diseases, including systemic lupus erythematosus. Clinical cases are described to underscore the significance of POMP in autoimmunity.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Gene POMP]]></kwd>
<kwd lng="es"><![CDATA[Proteosoma]]></kwd>
<kwd lng="es"><![CDATA[Ubiquitina]]></kwd>
<kwd lng="es"><![CDATA[Autoinmunidad]]></kwd>
<kwd lng="en"><![CDATA[POMP gene]]></kwd>
<kwd lng="en"><![CDATA[proteosome]]></kwd>
<kwd lng="en"><![CDATA[ubiquitin]]></kwd>
<kwd lng="en"><![CDATA[autoimmunity.]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Antonio]]></surname>
<given-names><![CDATA[Iglesias-Gamarra]]></given-names>
</name>
<name>
<surname><![CDATA[Heber]]></surname>
<given-names><![CDATA[Siachoque]]></given-names>
</name>
<name>
<surname><![CDATA[Bernardo]]></surname>
<given-names><![CDATA[Pons-Estel]]></given-names>
</name>
<name>
<surname><![CDATA[Félix]]></surname>
<given-names><![CDATA[Restrepo José]]></given-names>
</name>
<name>
<surname><![CDATA[Gerardo]]></surname>
<given-names><![CDATA[Quintana L]]></given-names>
</name>
<name>
<surname><![CDATA[Alberto]]></surname>
<given-names><![CDATA[Gómez Gutiérrez]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Historia de la autoinmunidad. Primera Parte La inmunología ¿desde dónde y hacia dónde?]]></article-title>
<source><![CDATA[Rev.Colomb.Reumatol]]></source>
<year>2009</year>
<volume>16</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>11-31</page-range></nlm-citation>
</ref>
<ref id="B2">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ray]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Yung]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Immune senescence, epigenetics and autoimmunity.]]></article-title>
<source><![CDATA[Clin Immunol.]]></source>
<year>2018</year>
<volume>196</volume>
<page-range>59-63</page-range></nlm-citation>
</ref>
<ref id="B3">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Pisetsky]]></surname>
<given-names><![CDATA[DS]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Pathogenesis of autoimmune disease]]></article-title>
<source><![CDATA[Nat Rev Nephrol]]></source>
<year>2023</year>
<volume>19</volume>
<numero>8</numero>
<issue>8</issue>
<page-range>509-24</page-range></nlm-citation>
</ref>
<ref id="B4">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Yadav]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[JY]]></given-names>
</name>
<name>
<surname><![CDATA[Puranik]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Chauhan]]></surname>
<given-names><![CDATA[PS]]></given-names>
</name>
<name>
<surname><![CDATA[Chavda]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Jin]]></surname>
<given-names><![CDATA[J-O]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Modulating the ubiquitin-proteasome system: A therapeutic strategy for autoimmune diseases]]></article-title>
<source><![CDATA[Cells]]></source>
<year>2022</year>
<volume>11</volume>
<numero>7</numero>
<issue>7</issue>
<page-range>1093</page-range></nlm-citation>
</ref>
<ref id="B5">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gupta]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Kaplan]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Bite of the wolf: innate immune responses propagate autoimmunity in lupus]]></article-title>
<source><![CDATA[J Clin Invest]]></source>
<year>2021</year>
<volume>131</volume>
<numero>3</numero>
<issue>3</issue>
</nlm-citation>
</ref>
<ref id="B6">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Theofilopoulos]]></surname>
<given-names><![CDATA[AN]]></given-names>
</name>
<name>
<surname><![CDATA[Kono]]></surname>
<given-names><![CDATA[DH]]></given-names>
</name>
<name>
<surname><![CDATA[Baccala]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The multiple pathways to autoimmunity]]></article-title>
<source><![CDATA[Nat Immunol]]></source>
<year>2017</year>
<volume>18</volume>
<numero>7</numero>
<issue>7</issue>
<page-range>716-24</page-range></nlm-citation>
</ref>
<ref id="B7">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Steinman]]></surname>
<given-names><![CDATA[RM]]></given-names>
</name>
<name>
<surname><![CDATA[Nussenzweig]]></surname>
<given-names><![CDATA[MC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Avoiding horror autotoxicus: the importance of dendritic cells in peripheral T cell tolerance]]></article-title>
<source><![CDATA[Proc Natl Acad Sci U S A]]></source>
<year>2002</year>
<volume>99</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>351-8</page-range></nlm-citation>
</ref>
<ref id="B8">
<nlm-citation citation-type="">
<collab>NIH</collab>
<source><![CDATA[POMP proteasome maturation protein [Homo sapiens (human)] - Gene - NCBI]]></source>
<year>2023</year>
<numero>Internet</numero>
<issue>Internet</issue>
</nlm-citation>
</ref>
<ref id="B9">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gómez-Martín]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Díaz-Zamudio]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Alcocer-Varela]]></surname>
<given-names><![CDATA[J.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Ubiquitination system and autoimmunity: the bridge towards the modulation of the immune response]]></article-title>
<source><![CDATA[Autoimmun Rev]]></source>
<year>2008</year>
<volume>7</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>284-90</page-range></nlm-citation>
</ref>
<ref id="B10">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Adams]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The proteasome: structure, function, and role in the cell.]]></article-title>
<source><![CDATA[Cancer Treat Rev]]></source>
<year>2003</year>
<volume>29</volume>
<page-range>3-9</page-range></nlm-citation>
</ref>
<ref id="B11">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Tai]]></surname>
<given-names><![CDATA[H-C]]></given-names>
</name>
<name>
<surname><![CDATA[Schuman]]></surname>
<given-names><![CDATA[EM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Ubiquitin, the proteasome and protein degradation in neuronal function and dysfunction]]></article-title>
<source><![CDATA[Nat Rev Neurosci]]></source>
<year>2008</year>
<volume>9</volume>
<numero>11</numero>
<issue>11</issue>
<page-range>826-38</page-range></nlm-citation>
</ref>
<ref id="B12">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Fricke]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Heink]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Steffen]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Kloetzel]]></surname>
<given-names><![CDATA[P-M]]></given-names>
</name>
<name>
<surname><![CDATA[Krüger]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The proteasome maturation protein POMP facilitates major steps of 20S proteasome formation at the endoplasmic reticulum]]></article-title>
<source><![CDATA[EMBO Rep]]></source>
<year>2007</year>
<volume>8</volume>
<numero>12</numero>
<issue>12</issue>
<page-range>1170-5</page-range></nlm-citation>
</ref>
<ref id="B13">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hirano]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Hendil]]></surname>
<given-names><![CDATA[KB]]></given-names>
</name>
<name>
<surname><![CDATA[Yashiroda]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Iemura]]></surname>
<given-names><![CDATA[S-I]]></given-names>
</name>
<name>
<surname><![CDATA[Nagane]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Hioki]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A heterodimeric complex that promotes the assembly of mammalian 20S proteasomes]]></article-title>
<source><![CDATA[Nature]]></source>
<year>2005</year>
<volume>437</volume>
<numero>7063</numero>
<issue>7063</issue>
<page-range>1381-5</page-range></nlm-citation>
</ref>
<ref id="B14">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Spyracopoulos]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The proteasome: More than a means to an end]]></article-title>
<source><![CDATA[Structure]]></source>
<year>2016</year>
<volume>24</volume>
<numero>8</numero>
<issue>8</issue>
<page-range>1221-3</page-range></nlm-citation>
</ref>
<ref id="B15">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Rousseau]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Bertolotti]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Regulation of proteasome assembly and activity in health and disease]]></article-title>
<source><![CDATA[Nat Rev Mol Cell Biol]]></source>
<year>2018</year>
<volume>19</volume>
<numero>11</numero>
<issue>11</issue>
<page-range>697-712</page-range></nlm-citation>
</ref>
<ref id="B16">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Maldonado]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The ubiquitin-proteasome system and its role in inflammatory and autoimmune diseases]]></article-title>
<source><![CDATA[Cell Mol Immunol]]></source>
<year>2006</year>
<volume>3</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>255-61</page-range></nlm-citation>
</ref>
<ref id="B17">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Heink]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Ludwig]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Kloetzel]]></surname>
<given-names><![CDATA[P-M]]></given-names>
</name>
<name>
<surname><![CDATA[Krüger]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[IFN-gamma-induced immune adaptation of the proteasome system is an accelerated and transient response]]></article-title>
<source><![CDATA[Proc Natl Acad Sci U S A]]></source>
<year>2005</year>
<volume>102</volume>
<numero>26</numero>
<issue>26</issue>
<page-range>9241-6</page-range></nlm-citation>
</ref>
<ref id="B18">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Morice-Picard]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Jonca]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Pichery]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Mermin]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Leauté-Labrèze]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Taïeb]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[KLICK syndrome: recognizable phenotype and hot-spot POMP mutation]]></article-title>
<source><![CDATA[J Eur Acad Dermatol Venereol]]></source>
<year>2017</year>
<volume>31</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>e154-6</page-range></nlm-citation>
</ref>
<ref id="B19">
<nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Brehm]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Ebstein]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Krüger]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<source><![CDATA[Proteasomes in Autoinflammation. En: Textbook of Autoinflammation]]></source>
<year>2019</year>
<page-range>123-36</page-range><publisher-loc><![CDATA[Cham ]]></publisher-loc>
<publisher-name><![CDATA[Springer International Publishing]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B20">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Chaves]]></surname>
<given-names><![CDATA[AJ]]></given-names>
</name>
<name>
<surname><![CDATA[Merchán-García]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Fernández-Recio]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
<name>
<surname><![CDATA[Rodríguez-Nevado]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[de Argila]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Queratosis linear con ictiosis congénita y queratodermia esclerosante (síndrome KLICK)]]></article-title>
<source><![CDATA[Actas Dermosifiliogr]]></source>
<year>2006</year>
<volume>97</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>342-4</page-range></nlm-citation>
</ref>
<ref id="B21">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Dahlqvist]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Klar]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Tiwari]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Schuster]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Törmä]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Badhai]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A single-nucleotide deletion in the POMP 5&#8217; UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>2010</year>
<volume>86</volume>
<page-range>596-603</page-range></nlm-citation>
</ref>
<ref id="B22">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Takeichi]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Akiyama]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[KLICK syndrome linked to a POMP mutation has features suggestive of an autoinflammatory keratinization disease]]></article-title>
<source><![CDATA[Front Immunol]]></source>
<year>2020</year>
<volume>11</volume>
<page-range>641</page-range></nlm-citation>
</ref>
<ref id="B23">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Onnis]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Bourrat]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Jonca]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Dreyfus]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Severino-Freire]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Pichery]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[KLICK syndrome: an unusual phenotype]]></article-title>
<source><![CDATA[Br J Dermatol]]></source>
<year>2018</year>
<volume>178</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>1445-6</page-range></nlm-citation>
</ref>
<ref id="B24">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Dahlqvist]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Törmä]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Badhai]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Dahl]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis]]></article-title>
<source><![CDATA[PLoS One]]></source>
<year>2012</year>
<volume>7</volume>
<numero>1</numero>
<issue>1</issue>
</nlm-citation>
</ref>
<ref id="B25">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Poli]]></surname>
<given-names><![CDATA[MC]]></given-names>
</name>
<name>
<surname><![CDATA[Ebstein]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Nicholas]]></surname>
<given-names><![CDATA[SK]]></given-names>
</name>
<name>
<surname><![CDATA[de Guzman]]></surname>
<given-names><![CDATA[MM]]></given-names>
</name>
<name>
<surname><![CDATA[Forbes]]></surname>
<given-names><![CDATA[LR]]></given-names>
</name>
<name>
<surname><![CDATA[Chinn]]></surname>
<given-names><![CDATA[IK]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Heterozygous truncating variants in POMP scape nonsense-mediated decay and cause a unique immune dysregulatory syndrome]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>2018</year>
<volume>102</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>1126-42</page-range></nlm-citation>
</ref>
<ref id="B26">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gatz]]></surname>
<given-names><![CDATA[SA]]></given-names>
</name>
<name>
<surname><![CDATA[Salles]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Jacobsen]]></surname>
<given-names><![CDATA[E-M]]></given-names>
</name>
<name>
<surname><![CDATA[Dörk]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Rausch]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Aydin]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[MCM3AP and POMP mutations cause a DNA-repair and DNA-damage-signaling defect in an immunodeficient child: Human mutation]]></article-title>
<source><![CDATA[Hum Mutat]]></source>
<year>2016</year>
<volume>37</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>257-68</page-range></nlm-citation>
</ref>
<ref id="B27">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Blicharz]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Czuwara]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Rudnicka]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Torrelo]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Autoinflammatory keratinization diseases-the concept, pathophysiology, and clinical implications]]></article-title>
<source><![CDATA[Clin Rev Allergy Immunol]]></source>
<year>2023</year>
</nlm-citation>
</ref>
<ref id="B28">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kaul]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Gordon]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Crow]]></surname>
<given-names><![CDATA[MK]]></given-names>
</name>
<name>
<surname><![CDATA[Touma]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
<name>
<surname><![CDATA[Urowitz]]></surname>
<given-names><![CDATA[MB]]></given-names>
</name>
<name>
<surname><![CDATA[van Vollenhoven]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Systemic lupus erythematosus]]></article-title>
<source><![CDATA[Nat Rev Dis Primers]]></source>
<year>2016</year>
<volume>2</volume>
<numero>1</numero>
<issue>1</issue>
</nlm-citation>
</ref>
<ref id="B29">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gupta]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Kaplan]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Bite of the wolf: innate immune responses propagate autoimmunity in lupus]]></article-title>
<source><![CDATA[J Clin Invest]]></source>
<year>2021</year>
<volume>131</volume>
<numero>3</numero>
<issue>3</issue>
</nlm-citation>
</ref>
<ref id="B30">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Caielli]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Wan]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
<name>
<surname><![CDATA[Pascual]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Systemic lupus erythematosus pathogenesis: Interferon and beyond]]></article-title>
<source><![CDATA[Annu Rev Immunol]]></source>
<year>2023</year>
<volume>41</volume>
<page-range>533-60</page-range></nlm-citation>
</ref>
<ref id="B31">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Romo-Tena]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Rajme-López]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Aparicio-Vera]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Alcocer-Varela]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Gómez-Martín]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Lys63-polyubiquitination by the E3 ligase casitas B-lineage lymphoma-b (Cbl-b) modulates peripheral regulatory T cell tolerance in patients with systemic lupus erythematosus]]></article-title>
<source><![CDATA[Clin Exp Immunol]]></source>
<year>2017</year>
<volume>191</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>42-9</page-range></nlm-citation>
</ref>
<ref id="B32">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[García-Herrera]]></surname>
<given-names><![CDATA[IP]]></given-names>
</name>
<name>
<surname><![CDATA[Ramírez-Urbina]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Medina-Ruiz]]></surname>
<given-names><![CDATA[CD]]></given-names>
</name>
<name>
<surname><![CDATA[Moreno-Salgado]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Aparicio-Vera]]></surname>
<given-names><![CDATA[LA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Infantile systemic inflammatory disease associated with a DE Novo POMP intragenic deletion]]></article-title>
<source><![CDATA[Annals of Clinical and Medical Case Reports]]></source>
<year>2023</year>
<volume>11</volume>
<numero>09</numero>
<issue>09</issue>
<page-range>01-6</page-range></nlm-citation>
</ref>
<ref id="B33">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Yadav]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[JY]]></given-names>
</name>
<name>
<surname><![CDATA[Puranik]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Chauhan]]></surname>
<given-names><![CDATA[PS]]></given-names>
</name>
<name>
<surname><![CDATA[Chavda]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Jin]]></surname>
<given-names><![CDATA[JO]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[PCW]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Modulating the Ubiquitin-Proteasome System: A Therapeutic Strategy for Autoimmune Diseases]]></article-title>
<source><![CDATA[Cells]]></source>
<year>2022</year>
<volume>11</volume>
<numero>7</numero>
<issue>7</issue>
<page-range>1093</page-range></nlm-citation>
</ref>
<ref id="B34">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Behl]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Chadha]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Sachdeva]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Kumar]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Hafeez]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Mehta]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Bungau]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Ubiquitination in rheumatoid arthritis]]></article-title>
<source><![CDATA[Life Sci]]></source>
<year>2020</year>
<volume>261</volume>
<page-range>118459</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
