<?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>1028-4818</journal-id>
<journal-title><![CDATA[Multimed]]></journal-title>
<abbrev-journal-title><![CDATA[Multimed]]></abbrev-journal-title>
<issn>1028-4818</issn>
<publisher>
<publisher-name><![CDATA[Centro Provincial de Información de Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1028-48182019000400823</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de kabuki y déficit selectivo de IgA: presentación de un caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Kabuki syndrome and selective IgA deficiency: presentation of a case]]></article-title>
<article-title xml:lang="pt"><![CDATA[Síndrome de Kabuki e deficiência seletiva de IgA: apresentação de um caso]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Borrero Tablada]]></surname>
<given-names><![CDATA[Caridad de las Mercedes]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Masó Zamora]]></surname>
<given-names><![CDATA[Marlin Estela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Ciencias Médicas de Granma Hospital Pediátrico Docente &#8220;General Luís Milanés&#8221; ]]></institution>
<addr-line><![CDATA[Bayamo Granma]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2019</year>
</pub-date>
<volume>23</volume>
<numero>4</numero>
<fpage>823</fpage>
<lpage>834</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1028-48182019000400823&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1028-48182019000400823&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1028-48182019000400823&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN Se realizó la presentación de un caso clínico de una paciente con el Síndrome de Kabuki, remitida a la consulta de Inmunología del Hospital Pediátrico Docente &#8220;General Luís Milanés&#8221;, de Bayamo, Granma, porque presentaba lesiones eccematosas en todas las regiones húmedas de la piel del cuerpo y dermatitis atópica en extremidades superiores e inferiores que a pesar de los diferentes tratamientos reaparecía con frecuencia unido al antecedente de que durante la niñez temprana presentó episodios frecuentes de rinitis alérgica, otitis, faringoamigdalitis y catarros. Teniendo en cuenta la sintomatología se realizaron estudios serológicos (cuantificación de inmunoglobulinas, hemograma con diferencial y conteo total de eosinófilos) para evaluar la inmunidad, obteniéndose una inmunodeficiencia primaria (Déficit Selectivo de IgA), Eosinofilia e Hiperinmunoglobulinemia E. Estos resultados aportan a la comunidad científica datos que ayudan a caracterizar el Síndrome de Kabuki en la esfera de la inmunidad puesto que se ha descrito muy poco el comportamiento sérico, además de constatar que los múltiples procesos infecciosos que aparecen pueden estar condicionados por las inmunodeficencias de tipo primario (porque la patogenia de ambas, aunque no está muy clara se ha planteado que aparece a nivel de los cromosomas), aumentando la susceptibilidad; de lo anterior se señala la importancia de este trabajo, además permite ofrecer a los familiares de los pacientes y a ellos mismos mejor orientación, tratamiento, pronóstico y calidad de vida.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT The presentation of a clinical case of a patient with the Kabuki Syndrome, submitted to the Immunology clinic of the Teaching General Hospital "General Luis Milanés", of Bayamo, Granma, was presented eczematous lesions in all the moist regions of the skin of the body and atopic dermatitis in the upper and lower extremities that, despite the different treatments, recurred frequently, together with the history of frequent episodes of allergic rhinitis, otitis, pharyngotonsillitis and colds during early childhood. Taking into account the symptoms, serological studies (immunoglobulin quantification, differential blood count and total eosinophil count) were performed to evaluate the immunity, obtaining a primary immunodeficiency (Selective IgA Deficit) eosinophilia and hyperimmunoglobulinemia E. These results provide the scientific community with data that help to characterize Kabuki Syndrome in the immunity field since the serum behavior has been described very little, besides confirming that the multiple infectious processes that appear can be conditioned by immunodeficencies of type primary (because the pathogenesis of both, although it is not very clear has been raised that appears at the level of the chromosomes), increasing its susceptibility. The above indicates the importance of this work, it also allows to offer the relatives of the patients already they themselves better orientation, treatment, prognosis and quality of life.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[RESUMO a apresentação de um caso clínico de um paciente com síndrome de Kabuki, referiu-se à consulta Imunologia Pediátrica Teaching Hospital "General Luis Milanés", de Bayamo, Granma foi feita, porque apresentava lesões eczematosas em todas as regiões úmidas da pele corpo e dermatite atópica em extremidades superior e inferior que, apesar dos diferentes tratamentos reaparecer frequentemente ligados à história de que durante episódios frequentes primeira infância apresentados de rinite alérgica, otite, faringite e resfriados. sintomas dadas estudos sorológicos (quantificação de imunoglobulinas, contagem de sangue com diferencial e contagem total de eosinófilos) foram realizados para avaliar a imunidade, a obtenção de uma imunodeficiência primária (deficiência de IgA selectiva), eosinofilia e Hiperimunoglobulinemia E. Estes resultados fornecem a comunidade dados científicos que ajuda a caracterizar a síndrome de Kabuki na área da imunidade tal como descrito comportamento soro muito pequena, para além de considerar que os vários processos infecciosos que apareça podem ser influenciadas pelo tipo primário inmunodeficencias (porque a patogénese de ambos, embora não seja muito claro, foi sugerido que aparece ao nível dos cromossomos), aumentando a suscetibilidade; Diante do exposto, destaca-se a importância deste trabalho, bem como proporcionar melhor orientação, tratamento, prognóstico e qualidade de vida aos familiares dos pacientes e a si mesmos.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Kabuki]]></kwd>
<kwd lng="es"><![CDATA[síndrome de Niikawa y Kuroki]]></kwd>
<kwd lng="en"><![CDATA[Kabuki]]></kwd>
<kwd lng="en"><![CDATA[Niikawa and Kuroki syndrome]]></kwd>
<kwd lng="pt"><![CDATA[síndrome de Kabuki]]></kwd>
<kwd lng="pt"><![CDATA[Niikawa e Kuroki]]></kwd>
</kwd-group>
</article-meta>
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