<?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>2448-9190</journal-id>
<journal-title><![CDATA[Revista alergia México]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. alerg. Méx.]]></abbrev-journal-title>
<issn>2448-9190</issn>
<publisher>
<publisher-name><![CDATA[Colegio Mexicano de Inmunología Clínica y Alergia A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2448-91902022000400228</article-id>
<article-id pub-id-type="doi">10.29262/ram.v69i4.1178</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Wiskott-Aldrich con plaquetas de tamaño normal y mutación c.295C&gt;T en el gen WAS. Informe de caso]]></article-title>
<article-title xml:lang="en"><![CDATA[(Wiskott-Aldrich syndrome with platelets of normal size and c.295C&gt;T mutation of the WAS gene. Case report]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Carneiro]]></surname>
<given-names><![CDATA[Maria Luiza Cunha]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Andrade]]></surname>
<given-names><![CDATA[Millena Xavier]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Leite]]></surname>
<given-names><![CDATA[Luiz Fernando Bacarini]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mosca]]></surname>
<given-names><![CDATA[Tainá]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Forte]]></surname>
<given-names><![CDATA[Wilma Carvalho Neves]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Setor de Alergia e Imunodeficiências da Irmandade  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Brasil</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Faculdade de Ciências Médicas  ]]></institution>
<addr-line><![CDATA[São Paulo ]]></addr-line>
<country>Brasil</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2022</year>
</pub-date>
<volume>69</volume>
<numero>4</numero>
<fpage>228</fpage>
<lpage>231</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S2448-91902022000400228&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S2448-91902022000400228&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S2448-91902022000400228&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Antecedentes:  El síndrome de Wiskott-Aldrich es un error innato de la inmunidad, distinguido por trombocitopenia, plaquetas pequeñas, eccema severo, infecciones recurrentes, y susceptibilidad a enfermedades autoinmunes y neoplasias. El diagnóstico es difícil de establecer, especialmente cuando las plaquetas son de tamaño normal.  Reporte de caso:  Paciente masculino de 3 años, enviado al Hospital Universitario da Santa Casa de São Paulo, Brasil, por otitis media aguda, con evolución a sepsis por Haemophilus influenzae. Al mes de edad fue diagnosticado con trombocitopenia autoinmune, y a los 2 años se llevó a cabo explenectomía. Durante el seguimiento requirió tres hospitalizaciones: una por infección por Streptococcus pneumoniae, que evolucionó a sepsis; otra por exacerbación de eccema, aislándose S. epidermidis, y la última por fiebre de origen indeterminado. Las pruebas de laboratorio informaron: concentración de plaquetas dentro de los valores de referencia después de la esplenectomía, y de tamaño normal. A los 4 años se efectuaron nuevas pruebas, que reportaron: IgE 3128 kU/L; IgA, IgG y anticuerpo anti-polisacáridos normales; disminución de IgM y de CD19, TCD4, T y B vírgenes; aumento de TCD8; NK normales. Se sospechó el diagnóstico de síndrome de Wiskott-Aldrich. Mediante estudios de genética se identificó la mutación c.295C&gt;T en el gen WAS.  Conclusiones:  El caso aquí expuesto expresó una nueva mutación en el gen SWA, caracterizado por manifestaciones clínicas de fenotipo leve del síndrome de Wiskott-Aldrich, con trombocitopenia, plaquetas de tamaño normal y herencia ligada al cromosoma X. Es importante establecer el diagnóstico y tratamiento oportunos para ofrecer una mejor calidad de vida en estos pacientes.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Background:  Wiskott-Aldrich syndrome is an Inborn Error of Immunity characterized by thrombocytopenia, small platelets, severe eczema, recurrent infections, tendency to autoimmune diseases and neoplasms. The diagnosis of the syndrome can be difficult, especially when platelets are of normal size.  Case report:  A three-year-old male patient was referred to a specialized sector of university hospital for presenting acute otitis media that progressed to sepsis by Haemophilus influenzae. At one month of age, he had been diagnosed with autoimmune thrombocytopenia, and splenectomy was performed at two years of age. During follow-up, three hospitalizations were necessary: an infection by Streptococcus pneumoniae, which progressed to sepsis; one due to exacerbation of eczema, isolating S. epidermidis; another due to fever of undetermined origin. The tests showed normal number of platelets after splenectomy, platelets always with normal size. At age four, tests were performed: IgE 3128 Ku/L; IgA, IgG, and normal anti-polysaccharide antibodies; decreased IgM; decrease CD19, TCD4, naïve T and B; increased TCD8; normal NK. A diagnostic hypothesis of &#8220;probable&#8221; WAS was made. Genetic research has identified the c.295C&gt;T mutation in the WAS gene.  Conclusions:  The case reported expressed a new mutation in the SWA gene, characterized by clinical manifestations of the mild phenotype of Wiskott-Aldrich syndrome, with thrombocytopenia, platelets of normal size, and X-linked inheritance. It is important to establish the early diagnosis and treatment to offer a better quality of life in these patients.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Síndrome de Wiskott-Aldrich]]></kwd>
<kwd lng="es"><![CDATA[Errores innatos de la inmunidad]]></kwd>
<kwd lng="es"><![CDATA[Inmunodeficiencias]]></kwd>
<kwd lng="en"><![CDATA[Wiskott-Aldrich Syndrome]]></kwd>
<kwd lng="en"><![CDATA[Inborn Errors of Immunity]]></kwd>
<kwd lng="en"><![CDATA[Immunodeficiencies]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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