<?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>0034-7531</journal-id>
<journal-title><![CDATA[Revista Cubana de Pediatría]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Cubana Pediatr]]></abbrev-journal-title>
<issn>0034-7531</issn>
<publisher>
<publisher-name><![CDATA[Centro Nacional de Información de Ciencias MédicasEditorial Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0034-75312022000200018</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Paciente con diagnóstico de Wiskott Aldrich y presencia de una nueva mutación]]></article-title>
<article-title xml:lang="en"><![CDATA[Patient diagnosed with Wiskott Aldrich and presence of a new mutation]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cedeño Velez]]></surname>
<given-names><![CDATA[Luis Fabricio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Milian Hernández]]></surname>
<given-names><![CDATA[Eduardo Josué]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Anzules Guerra]]></surname>
<given-names><![CDATA[Jazmín Beatríz]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Veliz Zevallos]]></surname>
<given-names><![CDATA[Ingebord]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Oncológico &#8220;Dr. Julio Villacreses Colmont&#8221; SOLCA ]]></institution>
<addr-line><![CDATA[ Manabí]]></addr-line>
<country>Ecuador</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Técnica de Manabí Facultad Ciencias de la Salud ]]></institution>
<addr-line><![CDATA[ Manabí]]></addr-line>
<country>Ecuador</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2022</year>
</pub-date>
<volume>94</volume>
<numero>2</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S0034-75312022000200018&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S0034-75312022000200018&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S0034-75312022000200018&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción:  El síndrome de Wiskott-Aldrich, es una inmunodeficiencia primaria, poco frecuente heredada de forma recesiva ligado al cromosoma X. Está asociado a fenotipos clínicos variables que se correlacionan con el tipo de mutación presente en la proteína del síndrome de Wiskott-Aldrich.  Objetivo:  Examinar el caso de un paciente con diagnóstico de Wiskott Aldrich y presencia de una mutación no descrita anteriormente.  Presentación del caso:  Paciente masculino cuya sintomatología se inició a los tres meses de edad, con infecciones respiratorias recurrentes, lesiones purpúricas hemorrágicas tipo equimosis, eccema y plaquetopenia. El diagnóstico se confirmó al año de inicio de los síntomas con la detección de una mutación no descrita anteriormente, ubicada en el codón 88 de la proteína del síndrome de Wiskott-Aldrich (p. Y88X; c.264C &gt; G), asociada a una variante clásica.  Conclusiones: La identificación temprana, diagnóstico y estratificación del fenotipo, es esencial para reducir los eventos desfavorables y complicaciones de la afección. El estudio genético es el medio de confirmación diagnóstica definitivo para el síndrome, lo que permite aplicar el protocolo terapéutico más adecuado para este tipo de inmunodeficiencia.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction:  Wiskott Aldrich syndrome is a primary immunodeficiency, rarely inherited in a recessive way and linked to the X chromosome. It is associated with variable clinical phenotypes that correlate with the type of mutation present in the Wiskott Aldrich syndrome protein.  Objective:  Examine the case of a patient diagnosed with Wiskott Aldrich and presence of a mutation not described above.  Case presentation:  Male patient whose symptoms began at three months of age, with recurrent respiratory infections, purpuric hemorrhagic lesions such as ecchymosis, eczema and platelettopenia. The diagnosis was confirmed one year of after the symptoms onset with the detection of a mutation not previously described, located in codon 88 of the Wiskott Aldrich syndrome protein (p. Y88X; c.264C&gt;G), associated with a classical variant.  Conclusions:  Early identification, diagnosis and stratification of the phenotype is essential to reduce unfavorable events and complications of the condition. The genetic study is the mean of definitive diagnostic confirmation for the syndrome, which allows to apply the most appropriate therapeutic protocol for this type of immunodeficiency.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[síndrome de Wiskott-Aldrich]]></kwd>
<kwd lng="es"><![CDATA[trombocitopenia]]></kwd>
<kwd lng="es"><![CDATA[púrpuras]]></kwd>
<kwd lng="es"><![CDATA[proteína del síndrome de Wiskott-Aldrich]]></kwd>
<kwd lng="es"><![CDATA[cromosoma X]]></kwd>
<kwd lng="es"><![CDATA[mutación]]></kwd>
<kwd lng="en"><![CDATA[Wiskott Aldrich syndrome]]></kwd>
<kwd lng="en"><![CDATA[thrombocytopenia]]></kwd>
<kwd lng="en"><![CDATA[purple]]></kwd>
<kwd lng="en"><![CDATA[Wiskott Aldrich syndrome protein]]></kwd>
<kwd lng="en"><![CDATA[X chromosome]]></kwd>
<kwd lng="en"><![CDATA[mutation]]></kwd>
</kwd-group>
</article-meta>
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