<?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>S2448-91902022000400220</article-id>
<article-id pub-id-type="doi">10.29262/ram.v69i4.1145</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Infección por bacilo de Calmette-Guérin y enfermedad granulomatosa crónica por nuevas variantes patogénicas del gen NCF2 en la etnia maya. Reporte de dos casos]]></article-title>
<article-title xml:lang="en"><![CDATA[Bacillus Calmette-Guérin infection and chronic granulomatous disease due to new pathogenic variants in the NCF2 gene in the Mayan ethnic group. Report of two cases]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Peñafiel-Vicuña]]></surname>
<given-names><![CDATA[Ana Karen]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Guzmán-Cotaya]]></surname>
<given-names><![CDATA[Rogelio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[González Reynoso]]></surname>
<given-names><![CDATA[Anelena]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Palma-Chan]]></surname>
<given-names><![CDATA[Adolfo Gonzalo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Baeza-Bastarrachea]]></surname>
<given-names><![CDATA[Ricardo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[García-Ruelas]]></surname>
<given-names><![CDATA[Sherel A.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Costta-Michuy]]></surname>
<given-names><![CDATA[Ángeles]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Razo-Requena]]></surname>
<given-names><![CDATA[Cielo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[León-Lara]]></surname>
<given-names><![CDATA[Ximena]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Espinosa-Padilla]]></surname>
<given-names><![CDATA[Sara]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Espinosa-Rosales]]></surname>
<given-names><![CDATA[Francisco]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bustamante]]></surname>
<given-names><![CDATA[Jacinta]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Blancas-Galicia]]></surname>
<given-names><![CDATA[Lizbeth]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto Nacional de Pediatría Unidad de Investigación en Inmunodeficiencias ]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Pediátrico Baca Ortiz  ]]></institution>
<addr-line><![CDATA[Quito ]]></addr-line>
<country>Ecuador</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Chavitos Clinic  ]]></institution>
<addr-line><![CDATA[Mérida ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Hospital General Agustín O&#8217;Horán Departamento de Infectología Pediátrica ]]></institution>
<addr-line><![CDATA[Mérida Yucatán]]></addr-line>
</aff>
<aff id="Af5">
<institution><![CDATA[,Clínica Pigüi  ]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Instituto Nacional de Pediatría Departamento de Genética ]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af7">
<institution><![CDATA[,Instituto de Inmunología Escuela de Medicina de Hannover ]]></institution>
<addr-line><![CDATA[Hannover ]]></addr-line>
<country>Alemania</country>
</aff>
<aff id="Af8">
<institution><![CDATA[,Fundación Mexicana para Niñ@s con Inmunodeficiencias  ]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af9">
<institution><![CDATA[,Laboratorio de Genética Humana de Enfermedades Infecciosas  ]]></institution>
<addr-line><![CDATA[Paris ]]></addr-line>
<country>Francia</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>220</fpage>
<lpage>227</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S2448-91902022000400220&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S2448-91902022000400220&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S2448-91902022000400220&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción:  La enfermedad granulomatosa crónica (EGC) es un error innato de la inmunidad, se caracteriza por una susceptibilidad a padecer infecciones bacterianas y fúngicas y a una falta de regulación inflamatoria sistémica. Las variantes patogénicas en el gen CYBB se trasmiten con un patrón de herencia ligada al X; mientras que las variantes patogénicas presentes en los genes EROS, NCF1, NCF2, NCF4 o CYBA se trasmiten con un patrón de herencia autosómico recesivo.  Objetivos.  Describir las características clínicas, inmunológicas y genéticas de dos pacientes con EGC e infección por BCG.  Métodos:  En neutrófilos de sangre periférica se midió la producción de H2O2 y la expresión de las subunidades de la NADPH oxidasa. La detección de las variantes patogénicas fue por secuenciación Sanger del gen NCF2. La información clínica fue extraída de los expedientes por los médicos tratantes.  Resultados:  Presentamos a dos lactantes masculinos de dos familias no relacionadas de la etnia maya, con EGC e infección por la vacuna de BCG. Se identificaron tres diferentes variantes patogénicas en el gen NCF2; por un lado, c.304 C&gt;T (p.Arg102*) ya reportada, por otro lado, c.1369 A&gt;T (p.Lys457*) y c.979 G&gt;T (p.Gly327*) no reportadas. Conclusiones: En pacientes con infección micobacteriana por BCG debemos sospechar en un error innato de la inmunidad, como la EGC. El diagnóstico de EGC se realiza a través de la detección de una falta de producción de radicales libres en los neutrófilos. Los pacientes reportados tuvieron variantes patogénicas en el gen NCF2, dos de ellas no han sido reportadas previamente en la literatura.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction:  Chronic granulomatous disease (CGD) is an inborn error of immunity, characterized by abnormal sus- ceptibility to bacterial and fungal infections and a lack of systemic inflammatory regulation. Pathogenic variants in the CYBB gene are transmitted in an X-linked pattern of inheritance; while the pathogenic variants present in the EROS, NCF1, NCF2, NCF4, or CYBA genes are transmitted with an autosomal recessive inheritance pattern.  Objectives: To describe the clinical, immunological, and genetic characteristics of two patients with CGD and BCG infection. Methods: In peripheral blood neutrophils, H2O2 production and the expression of NADPH oxidase subunits were measured. Detection of pathogenic variants was by Sanger sequencing of the NCF2 gene. The clinical information was extracted from the records by the treating physicians.  Results:  We present two male infants from two unrelated families of Mayan ethnicity, with CGD and BCG vac- cine infection. Three different pathogenic variants in the NCF2 gene were identified; on the one hand, c.304 C&gt;T (p.Arg102*) has already been reported, on the other hand, c.1369 A&gt;T (p.Lys457*) and c.979 G&gt;T (p.Gly327*) not reported.  Conclusions:  In patients with mycobacterial infection with BCG, we should suspect an inborn error of immunity, such as CGD. The diagnosis of CGD is made through the detection of a lack of radical oxygen species in neutrophils. The reported patients had pathogenic variants in the NCF2 gene, two of which have not been previously reported in the literature.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[NCF2]]></kwd>
<kwd lng="es"><![CDATA[p57 phox]]></kwd>
<kwd lng="es"><![CDATA[enfermedad granulomatosa crónica]]></kwd>
<kwd lng="es"><![CDATA[BGC]]></kwd>
<kwd lng="es"><![CDATA[tuberculosis]]></kwd>
<kwd lng="es"><![CDATA[Maya]]></kwd>
<kwd lng="en"><![CDATA[NCF2]]></kwd>
<kwd lng="en"><![CDATA[p67 phox]]></kwd>
<kwd lng="en"><![CDATA[chronic granulomatous disease]]></kwd>
<kwd lng="en"><![CDATA[BCG]]></kwd>
<kwd lng="en"><![CDATA[tuberculosis]]></kwd>
<kwd lng="en"><![CDATA[Mayan]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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