<?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>0120-0011</journal-id>
<journal-title><![CDATA[Revista de la Facultad de Medicina]]></journal-title>
<abbrev-journal-title><![CDATA[rev.fac.med.]]></abbrev-journal-title>
<issn>0120-0011</issn>
<publisher>
<publisher-name><![CDATA[Universidad Nacional de Colombia]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0120-00112019000100161</article-id>
<article-id pub-id-type="doi">10.15446/revfacmed.v67n1.56918</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Inmunodeficiencia combinada severa (SCID) en Neiva, Colombia. Reporte de caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Severe combined immunodeficiency (SCID) in Neiva, Colombia: Case Report]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ortiz-Polanco]]></surname>
<given-names><![CDATA[Silvia Patricia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Castañeda-Uvajoa]]></surname>
<given-names><![CDATA[Diana Mercedes]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vega]]></surname>
<given-names><![CDATA[Martha Rocío]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Salgado]]></surname>
<given-names><![CDATA[Doris Martha Cecilia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Narváez]]></surname>
<given-names><![CDATA[Carlos Fernando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rodríguez]]></surname>
<given-names><![CDATA[Jairo Antonio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Universitario Hernando Moncaleano Perdomo  ]]></institution>
<addr-line><![CDATA[Neiva Huila]]></addr-line>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Surcolombiana Facultad de Salud Grupo de Investigación Parasitología y Medicina Tropical]]></institution>
<addr-line><![CDATA[Neiva ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad Surcolombiana Facultad de Salud Laboratorio de Infección &amp; Inmunidad]]></institution>
<addr-line><![CDATA[Neiva ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Hospital Universitario Hernando Moncaleano Perdomo  ]]></institution>
<addr-line><![CDATA[Neiva ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>03</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>03</month>
<year>2019</year>
</pub-date>
<volume>67</volume>
<numero>1</numero>
<fpage>161</fpage>
<lpage>164</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-00112019000100161&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-00112019000100161&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-00112019000100161&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción. Las inmunodeficiencias primarias son enfermedades genéticas del sistema inmune que incrementan la susceptibilidad a infecciones. Una de las formas más graves en niños es la inmunodeficiencia combinada severa.  Presentación del caso. Se presenta el caso de un niño que fue diagnosticado con inmunodeficiencia combinada severa; este era un paciente masculino de ocho meses que presentó cuadro clínico consistente en múltiples hospitalizaciones debido a infección por citomegalovirus, endocarditis por Candida albicans e infección recurrente de las vías urinarias por Pseudomonas aeruginosa. El perfil inmunológico mostró disminución del número absoluto de células CD3+ y CD19+, lo que permitió realizar el diagnóstico de inmunodeficiencia combinada severa instaurándose manejo; sin embargo, el niño no se recuperó y falleció.  Conclusiones. Las inmunodeficiencias primarias son patologías que requieren una intervención oportuna que permita brindar un mejor pronóstico a los pacientes.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction: Primary immunodeficiencies are genetic disorders of the immune system that increase susceptibility to infections. One of the most serious forms in children is severe combined immunodeficiency.  Case presentation: This is the report of the case of an 8-monthold male patient who was diagnosed with severe combined immunodeficiency. The child presented a clinical profile consisting of multiple hospitalizations due to cytomegalovirus infection, endocarditis by Candida albicans and recurrent urinary tract infection by Pseudomonas aeruginosa. The immune profile showed a decrease in the absolute number of CD3+ and CD19+ cells, which led to the diagnosis of severe combined immunodeficiency. Even though management was established, the child did not recover and died.  Conclusions: The primary immunodeficiencies are disorders that require timely intervention to provide a better prognosis to patients.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Inmunodeficiencia combinada severa]]></kwd>
<kwd lng="es"><![CDATA[Inmunoglobulinas]]></kwd>
<kwd lng="es"><![CDATA[Infecciones bacterianas (DeCS)]]></kwd>
<kwd lng="en"><![CDATA[Severe Combined Immunodeficiency]]></kwd>
<kwd lng="en"><![CDATA[Immunoglobulins]]></kwd>
<kwd lng="en"><![CDATA[Bacterial Infections (MeSH)]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Notarangelo]]></surname>
<given-names><![CDATA[LD]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Primary immunodeficiencies]]></article-title>
<source><![CDATA[J Allergy Clin Immunol]]></source>
<year>2010</year>
<volume>125</volume>
<numero>2^s2</numero>
<issue>2^s2</issue>
<supplement>2</supplement>
<page-range>S182-94</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lipstein]]></surname>
<given-names><![CDATA[EA]]></given-names>
</name>
<name>
<surname><![CDATA[Vorono]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Browning]]></surname>
<given-names><![CDATA[MF]]></given-names>
</name>
<name>
<surname><![CDATA[Green]]></surname>
<given-names><![CDATA[NS]]></given-names>
</name>
<name>
<surname><![CDATA[Kemper]]></surname>
<given-names><![CDATA[AR]]></given-names>
</name>
<name>
<surname><![CDATA[Knapp]]></surname>
<given-names><![CDATA[AA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency]]></article-title>
<source><![CDATA[Pediatrics]]></source>
<year>2010</year>
<volume>125</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>e1226-35</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Morbach]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Eichhorn]]></surname>
<given-names><![CDATA[EM]]></given-names>
</name>
<name>
<surname><![CDATA[Liese]]></surname>
<given-names><![CDATA[JG]]></given-names>
</name>
<name>
<surname><![CDATA[Girschick]]></surname>
<given-names><![CDATA[HJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Reference values for B cell subpopulations from infancy to adulthood]]></article-title>
<source><![CDATA[Clin Exp Immunol]]></source>
<year>2010</year>
<volume>162</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>271-9</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Conley]]></surname>
<given-names><![CDATA[ME]]></given-names>
</name>
<name>
<surname><![CDATA[Notarangelo]]></surname>
<given-names><![CDATA[LD]]></given-names>
</name>
<name>
<surname><![CDATA[Etzioni]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)]]></article-title>
<source><![CDATA[Clin Immunol]]></source>
<year>1999</year>
<volume>93</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>190-7</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lim]]></surname>
<given-names><![CDATA[MS]]></given-names>
</name>
<name>
<surname><![CDATA[Elenitoba-Johnson]]></surname>
<given-names><![CDATA[KS]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The molecular pathology of primary immunodeficiencies]]></article-title>
<source><![CDATA[J MolDiagn]]></source>
<year>2004</year>
<volume>6</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>59-83</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<collab>International Union of Immunological Societies Expert Committee on Primary I</collab>
<article-title xml:lang=""><![CDATA[Primary immunodeficiencies: 2009 update]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Notarangelo]]></surname>
<given-names><![CDATA[LD]]></given-names>
</name>
<name>
<surname><![CDATA[Fischer]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Geha]]></surname>
<given-names><![CDATA[RS]]></given-names>
</name>
<name>
<surname><![CDATA[Casanova]]></surname>
<given-names><![CDATA[JL]]></given-names>
</name>
<name>
<surname><![CDATA[Chapel]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<source><![CDATA[J Allergy Clin Immunol]]></source>
<year>2009</year>
<volume>124</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>1161-78</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Leiva]]></surname>
<given-names><![CDATA[LE]]></given-names>
</name>
<name>
<surname><![CDATA[Zelazco]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Oleastro]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Carneiro-Sampaio]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Condino-Neto]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Costa-Carvalho]]></surname>
<given-names><![CDATA[BT]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Primary immunodeficiency diseases in Latin America: the second report of the LAGID registry]]></article-title>
<source><![CDATA[J Clin Immunol]]></source>
<year>2007</year>
<volume>27</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>101-8</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[de Vries]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Driessen]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Educational paper: Primary immunodeficiencies in children: a diagnostic challenge]]></article-title>
<source><![CDATA[Eur JPediatr]]></source>
<year>2011</year>
<volume>170</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>169-77</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Cirillo]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Giardino]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Gallo]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[D'Assante]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Grasso]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Romano]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Severe combined immunodeficiency--an update]]></article-title>
<source><![CDATA[Ann N Y Acad Sci]]></source>
<year>2015</year>
<volume>1356</volume>
<page-range>90-106</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Jyothi]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Lissauer]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Welch]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Hackett]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Immune deficiencies in children: an overview]]></article-title>
<source><![CDATA[Arch Dis Child Educ Pract Ed]]></source>
<year>2013</year>
<volume>98</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>186-96</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Sarmiento]]></surname>
<given-names><![CDATA[JD]]></given-names>
</name>
<name>
<surname><![CDATA[Villada]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Orrego]]></surname>
<given-names><![CDATA[JC]]></given-names>
</name>
<name>
<surname><![CDATA[Franco]]></surname>
<given-names><![CDATA[JL]]></given-names>
</name>
<name>
<surname><![CDATA[Trujillo-Vargas]]></surname>
<given-names><![CDATA[CM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Adverse events following immunization in patients with primary immunodeficiencies]]></article-title>
<source><![CDATA[Vaccine]]></source>
<year>2016</year>
<volume>34</volume>
<numero>13</numero>
<issue>13</issue>
<page-range>1611-6</page-range></nlm-citation>
</ref>
<ref id="B12">
<label>12</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Rivers]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Gaspar]]></surname>
<given-names><![CDATA[HB]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Severe combined immunodeficiency: recent developments and guidance on clinical management]]></article-title>
<source><![CDATA[Arch Dis Child]]></source>
<year>2015</year>
<volume>100</volume>
<numero>7</numero>
<issue>7</issue>
<page-range>667-72</page-range></nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Fischer]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Landais]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Friedrich]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Morgan]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Gerritsen]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Fasth]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[European experience of bone-marrow transplantation for severe combined immunodeficiency]]></article-title>
<source><![CDATA[Lancet]]></source>
<year>1990</year>
<volume>336</volume>
<numero>8719</numero>
<issue>8719</issue>
<page-range>850-4</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
