<?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>S2448-91902018000100108</article-id>
<article-id pub-id-type="doi">10.29262/ram.v65i1.314</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Identificación de nuevas mutaciones en TCIRG1 como causa de osteopetrosis maligna infantil en dos pacientes mexicanos]]></article-title>
<article-title xml:lang="en"><![CDATA[Identification of new mutations in TCIRG1 as a cause of infantile malignant osteopetrosis in two Mexican patients]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Hernández-Martínez]]></surname>
<given-names><![CDATA[Claudia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Guzmán-Martínez]]></surname>
<given-names><![CDATA[Mara Noemí]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Scheffler-Mendoza]]></surname>
<given-names><![CDATA[Selma]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Espinosa-Padilla]]></surname>
<given-names><![CDATA[Sara Elva]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sobacchi]]></surname>
<given-names><![CDATA[Cristina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</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[,Secretaría de Salud Instituto Nacional de Pediatría ]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Secretaría de Salud Instituto Nacional de Pediatría ]]></institution>
<addr-line><![CDATA[Ciudad de México ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,National Research Council Institute for Genetic and Biomedical Research ]]></institution>
<addr-line><![CDATA[ Milán]]></addr-line>
<country>Italia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Humanitas Research Hospital  ]]></institution>
<addr-line><![CDATA[ Milán]]></addr-line>
<country>Italia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>03</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>03</month>
<year>2018</year>
</pub-date>
<volume>65</volume>
<numero>1</numero>
<fpage>108</fpage>
<lpage>116</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S2448-91902018000100108&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S2448-91902018000100108&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S2448-91902018000100108&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen:  Antecedentes:  La osteopetrosis es un grupo heterogéneo de enfermedades que se caracterizan por aumento de la densidad ósea debido a anomalías en la diferenciación o función de los osteoclastos, lo que se traduce en falta de reabsorción ósea.  Reporte de casos:  Dos pacientes con osteopetrosis quienes iniciaron su padecimiento desde los primeros meses de vida, con dismorfia facial, ceguera, sordera, hepatoesplenomegalia, hipotonía, retraso del neurodesarrollo y bicitopenia. Las radiografías óseas mostraron osteoesclerosis. Fueron valorados por diversos especialistas antes del diagnóstico definitivo. El análisis genético determinó mutaciones en el gen TCIRG1. En el paciente 1 se identificó una mutación homocigota para p.Ile720Alafs*14, la cual no ha sido reportada. En el paciente 2 se registró una mutación heterocigota compuesta: la primera p.Phe459Leufs*79 y la segunda p.Gly159Argfs*68, ninguna de las cuales han sido descritas hasta donde tenemos conocimiento.  Conclusión:  La única opción terapéutica de los pacientes con osteopetrosis es el trasplante de células progenitoras hematopoyéticas (TCPH), que se debe realizar en el transcurso de los primeros tres meses de vida, antes de que se origine daño neurológico. Si bien el diagnóstico de osteopetrosis es relativamente sencillo, se retrasa debido a la falta de sospecha clínica.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract:  Background:  Osteopetrosis is a heterogeneous group of diseases that are characterized by increased bone density due to abnormalities in osteoclast differentiation or function, which result in a lack of bone resorption.  Case reports:  Two patients with osteopetrosis onset since the first months of life, with facial dysmorphia, blindness, deafness, hepatosplenomegaly, hypotonia, neurodevelopmental retardation and bicytopenia. Bone radiographs showed osteosclerosis. They were assessed by different specialists prior to definitive diagnosis. Genetic analysis determined mutations in the TCIRG1 gene. Patient 1 had a homozygous mutation for p.Ile720Alafs*14 identified, which hasn&#8217;t been previously reported. Patient 2 had a compound heterozygous mutation: the first one, p.Phe459Leufs*79, and the second one, p.Gly159Argfs*68, none of which has been previously reported as far as we know.  Conclusion:  The only therapeutic option for patients with osteopetrosis is hematopoietic stem cell transplantation (HSCT), which should be carried out in the course of the first 3 months of life, before neurological damage occurs. Although osteopetrosis diagnosis is relatively simple, it is delayed owing to the lack of clinical suspicion.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Osteopetrosis maligna infantil]]></kwd>
<kwd lng="es"><![CDATA[Osteoesclerosis]]></kwd>
<kwd lng="es"><![CDATA[TCIRG1]]></kwd>
<kwd lng="es"><![CDATA[Trasplante de células progenitoras hematopoyéticas]]></kwd>
<kwd lng="en"><![CDATA[Infantile malignant osteopetrosis]]></kwd>
<kwd lng="en"><![CDATA[Osteosclerosis]]></kwd>
<kwd lng="en"><![CDATA[TCIRG1]]></kwd>
<kwd lng="en"><![CDATA[Hematopoietic stem cell transplantation]]></kwd>
</kwd-group>
</article-meta>
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