<?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>0120-4157</journal-id>
<journal-title><![CDATA[Biomédica]]></journal-title>
<abbrev-journal-title><![CDATA[Biomed.]]></abbrev-journal-title>
<issn>0120-4157</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Salud]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-41572024000600039</article-id>
<article-id pub-id-type="doi">10.7705/biomedica.7636</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency]]></article-title>
<article-title xml:lang="es"><![CDATA[Variante con pérdida de función en MAGT1 causante de la enfermedad de XMEN en un paciente colombiano con inmunodeficiencia común variable]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gutiérrez-Hincapié]]></surname>
<given-names><![CDATA[Sebastián]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Orrego]]></surname>
<given-names><![CDATA[Julio César]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Franco]]></surname>
<given-names><![CDATA[José Luis]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Trujillo-Vargas]]></surname>
<given-names><![CDATA[Claudia M.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Antioquia Grupo de Inmunodeficiencias Primarias Facultad de Medicina]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2024</year>
</pub-date>
<volume>44</volume>
<fpage>39</fpage>
<lpage>47</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-41572024000600039&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-41572024000600039&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-41572024000600039&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction. Common variable immunodeficiency is a diagnosis of exclusion in immunodeficient patients with increased susceptibility to infections, hypogammaglobulinemia, deficient response to vaccination, or low percentages of switched memory B cells. In low- and middle-income countries, the elucidation and study of molecular defects in these patients may take decades.  Objective. To elucidate the genetic defect conferring impaired immunity in a patient diagnosed with common variable immunodeficiency.  Materials and methods. The clinical phenotype was extracted from the clinical records. NKG2D expression in natural killer cells was evaluated by flow cytometry. The whole exome sequencing was performed in the patient and his parents. Sanger sequencing confirmed the pathogenic variant.  Results. The patient suffered from upper respiratory and urinary tract infections, autoimmune hemolytic anemia, and hepatopathy. NKG2D was decreased in the different blood subpopulations of natural killer cells. Serologic and viral load studies for Epstein- Barr virus were positive, but no B-cell malignancies have been documented. The patient presented a nonsense variant in the exon 3 of the MAGT1 gen (c.409C&gt;T, rs387906724) in the X chromosome, resulting in an amino acid substitution of arginine for a stop codon in the position 137 of the protein (R137X). The mother also carried the pathogenic variant in a heterozygous state.  Conclusions. We report the clinical case of the first Colombian male patient with a pathogenic variant in MAGT1 associated with XMEN disease. Genetic counseling and followup are recommended for families with similar cases to allow prompt detection of new cases.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción. La inmunodeficiencia común variable es un diagnóstico de exclusión en pacientes con mayor susceptibilidad a las infecciones, hipogammaglobulinemia, reacción deficiente a la vacunación o disminución de los porcentajes de linfocitos B de memoria en sangre. En los países de bajos y medianos ingresos, la definición y el estudio de los defectos moleculares en estos pacientes puede tardar décadas.  Objetivo. Dilucidar el defecto genético que produce la alteración de la inmunidad en un paciente con diagnóstico de inmunodeficiencia común variable.  Materiales y métodos. El fenotipo del paciente se obtuvo de la historia clínica. La expresión de NKG2D en células asesinas naturales se evaluó mediante citometría de flujo. Se realizó la secuenciación completa del exoma del paciente y de sus padres. Por medio de secuenciación por Sanger, se confirmó la variante patogénica.  Resultados. El paciente reportó infecciones urinarias y de las vías aéreas superiores, además de anemia hemolítica autoinmunitaria y hepatopatía. Se observó una disminución de la expresión de NKG2D en las diferentes subpoblaciones sanguíneas de las células asesinas naturales. Los estudios serológicos y de carga viral para el virus de Epstein-Barr fueron positivos, pero, hasta la fecha, no se ha documentado neoplasia de las células B. El paciente presentó una mutación sin sentido en el exón 3 del gen MAGT1 (c.409C&gt;T, rs387906724) en el cromosoma X, lo que resultó en una sustitución del aminoácido arginina por un codón de parada en la posición 137 de la proteína (R137X).  Conclusiones. Se presenta el primer informe de un paciente colombiano con una mutación en MAGT1 asociada con la enfermedad XMEN, con diagnóstico previo de inmunodeficiencia común variable. Se recomienda asesoramiento genético y seguimiento para las familias con casos similares, para permitir la pronta detección de nuevos casos.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Common variable immunodeficiency]]></kwd>
<kwd lng="en"><![CDATA[herpesvirus type 4, human]]></kwd>
<kwd lng="en"><![CDATA[primary immunodeficiency diseases]]></kwd>
<kwd lng="es"><![CDATA[inmunodeficiencia común variable]]></kwd>
<kwd lng="es"><![CDATA[herpesvirus humano de tipo 4]]></kwd>
<kwd lng="es"><![CDATA[enfermedades de inmunodeficiencia primaria.]]></kwd>
</kwd-group>
</article-meta>
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