<?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>S0120-41572024000600168</article-id>
<article-id pub-id-type="doi">10.7705/biomedica.7533</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia]]></article-title>
<article-title xml:lang="es"><![CDATA[Del diagnóstico fenotípico al molecular: perspectivas desde un servicio de inmunología clínica enfocado en errores innatos de la inmunidad en Colombia]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Fernandes-Pineda]]></surname>
<given-names><![CDATA[Mónica]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Zea-Vera]]></surname>
<given-names><![CDATA[Andrés F.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad del Valle Departamento de Medicina Interna ]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad del Valle Departamento de Microbiología Facultad de Salud]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,National Institutes of Health  ]]></institution>
<addr-line><![CDATA[Bethesda Maryland]]></addr-line>
<country>USA</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>168</fpage>
<lpage>178</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0120-41572024000600168&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0120-41572024000600168&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0120-41572024000600168&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction.  Inborn errors of immunity include a broad spectrum of genetic diseases, in which a specific gene mutation might alter the entire emphasis and approach for an individual patient.  Objective.  To conduct a comprehensive analysis of the correlation between phenotypic and molecular diagnoses in patients with confirmed inborn errors of immunity at a tertiary hospital in Cali, Colombia.  Materials and methods.  We conducted a retrospective study in which we sequentially evaluated all available institutional medical records with a diagnosis of inborn errors of immunity.  Results.  In the Clinical Immunology Service of the Hospital Universitario del Valle, 517 patients were evaluated. According to the IUIS-2022 classification, 92 patients (17.35%) were definitively diagnosed with an inborn error of immunity. Of these, 38 patients underwent genetic studies. The most prevalent category was predominantly antibody deficiencies (group III) (38/92 - 41.3%). A broad spectrum of genetic defects, novel and previously reported, were described, including mutations in the following genes: ATM, BTK, ERBIN, MAB21L2, RAG2, SAVI, SH2D1A, STAT1, SYK, and TMEM173. Less frequent findings included cases of the WHIM syndrome, SYKgain-of-function, and IL-7 deficiency.  Conclusions.  The establishment of the Clinical Immunology Service in the Hospital Universitario del Valle has emerged as a pivotal resource, catering to individuals with limited financial means and covered by public health insurance within the southwest region of Colombia. Molecular genetics confirmatory diagnosis was achieved in 38 patients (41.3%) with inborn errors of immunity and changed the diagnosis in 24 cases (26%).]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción.  Los errores innatos de la inmunidad incluyen un amplio espectro de enfermedades genéticas, en las cuales una mutación puede alterar completamente el enfoque y tratamiento de cada paciente.  Objetivo.  Hacer un análisis exhaustivo de la correlación entre los diagnósticos fenotípico y molecular de los pacientes con errores innatos de la inmunidad, confirmados en un hospital terciario de Cali, Colombia.  Materiales y métodos.  Se desarrolló un estudio retrospectivo mediante la evaluación secuencial de las historias clínicas de los pacientes con errores innatos de la inmunidad que habían consultado al Servicio de Inmunología Clínica del Hospital Universitario del Valle.  Resultados.  En el Servicio de Inmunología Clínica del Hospital Universitario del Valle se habían atendido 517 pacientes. Según la clasificación IUIS-2022, 92 pacientes (17,35 %) fueron diagnosticados con errores innatos de la inmunidad, de los cuales, 38 fueron sometidos a estudios genéticos. El grupo más prevalente de errores innatos de la inmunidad fue el de deficiencias predominantemente de anticuerpos (grupo III) (38/92 - 41.3 %). Se encontró un amplio espectro de defectos genéticos-nuevos y previamente reportados - incluyendo mutaciones en los genes ATM, BTK, ERBIN, MAB21L2, RAG2, SAVI, SH2D1A, STAT1, SYK y TMEM173. Entre los hallazgos menos frecuentes, se identificaron casos de síndrome de WHIM, aumento de la función del SYK y deficiencia de IL-7.  Conclusiones.  El establecimiento del Servicio de Inmunología Clínica del Hospital Universitario del Valle ha emergido como un recurso fundamental para atender a personas con recursos financieros limitados en el suroccidente colombiano. El diagnóstico genético se logró en 38 casos (41.3 %) de pacientes con errores innatos de la inmunidad y cambió el diagnóstico en 24 pacientes (26 %).]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Molecular diagnostic techniques]]></kwd>
<kwd lng="en"><![CDATA[autoimmunity]]></kwd>
<kwd lng="en"><![CDATA[primary immunodeficiency diseases.]]></kwd>
<kwd lng="es"><![CDATA[técnicas de diagnóstico molecular]]></kwd>
<kwd lng="es"><![CDATA[autoinmunidad]]></kwd>
<kwd lng="es"><![CDATA[enfermedades de inmunodeficiencia primaria.]]></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[Boyle]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
<name>
<surname><![CDATA[Buckley]]></surname>
<given-names><![CDATA[RH]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Population prevalence of diagnosed primary immunodeficiency diseases in the United States]]></article-title>
<source><![CDATA[J Clin Immunol]]></source>
<year>2007</year>
<volume>27</volume>
<page-range>497-502</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[Vásquez]]></surname>
<given-names><![CDATA[E]]></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>
</person-group>
<article-title xml:lang=""><![CDATA[Espectro de las inmunodeficiencias primarias en Colombia: reporte del Centro Nacional de Referencia Jeffrey Modell para diagnóstico e investigación en inmunodeficiencias primarias (CJM-UDEA)]]></article-title>
<source><![CDATA[latreia]]></source>
<year>2013</year>
<volume>26</volume>
<numero>Supp. 3</numero>
<issue>Supp. 3</issue>
<page-range>S43</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[Ochs]]></surname>
<given-names><![CDATA[HD]]></given-names>
</name>
<name>
<surname><![CDATA[Hitzig]]></surname>
<given-names><![CDATA[WH]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[History of primary immunodeficiency diseases]]></article-title>
<source><![CDATA[Curr Opin Allergy Clin Immunol]]></source>
<year>2012</year>
<volume>12</volume>
<page-range>577-87</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[Montoya]]></surname>
<given-names><![CDATA[CJ]]></given-names>
</name>
<name>
<surname><![CDATA[Henao]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Salgado]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Diagnóstico fenotípico de las inmunodeficiencias primarias en Antioquia, Colombia, 1994-2002]]></article-title>
<source><![CDATA[Biomédica]]></source>
<year>2002</year>
<volume>22</volume>
<page-range>510-8</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[Pareja-Arcila]]></surname>
<given-names><![CDATA[ML.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Situación actual de las enfermedades huérfanas en Colombia 2017]]></article-title>
<source><![CDATA[CES Derecho]]></source>
<year>2017</year>
<volume>8</volume>
<page-range>231-41</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6.</label><nlm-citation citation-type="book">
<collab>Immune Deficiency Foundation</collab>
<source><![CDATA[Primary Immunodeficiency Diseases in America: 2007: The Third National Survey of Patients]]></source>
<year>2009</year>
<publisher-name><![CDATA[Hanover: Immune Deficiency Foundation]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B7">
<label>7.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Bousfiha]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Moundir]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Tangye]]></surname>
<given-names><![CDATA[SG]]></given-names>
</name>
<name>
<surname><![CDATA[Picard]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Jeddane]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Al-Herz]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity]]></article-title>
<source><![CDATA[J Clin Immunol]]></source>
<year>2022</year>
<volume>42</volume>
<page-range>1508-20</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[Rojas-Restrepo]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Caballero-Oteyza]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Huebscher]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Haberstroh]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Fliegauf]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Keller]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Establishing the molecular diagnoses in a cohort of 291 patients with predominantly antibody deficiency by targeted next-generation sequencing: Experience from a monocentric study]]></article-title>
<source><![CDATA[Front Immunol]]></source>
<year>2021</year>
<volume>12</volume>
</nlm-citation>
</ref>
<ref id="B9">
<label>9.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Moundir]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Ouair]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Benhsaien]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Jeddane]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Rada]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Amenzoui]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genetic diagnosis of inborn errors of immunity in an emerging country: A retrospective study of 216 Moroccan patients]]></article-title>
<source><![CDATA[J Clin Immunol]]></source>
<year>2023</year>
<volume>43</volume>
<page-range>485-94</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[Zea-Vera]]></surname>
<given-names><![CDATA[AF.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Common variable immunodeficiency and chronic hepatitis B: Therapeutic challenge]]></article-title>
<source><![CDATA[Clin Res Hepatol Gastroenterol]]></source>
<year>2020</year>
<volume>44</volume>
</nlm-citation>
</ref>
<ref id="B11">
<label>11.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Zea-Vera]]></surname>
<given-names><![CDATA[AF]]></given-names>
</name>
<name>
<surname><![CDATA[Agudelo-Rojas]]></surname>
<given-names><![CDATA[OL]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Disseminated bronchiectasis in an adult with common variable immunodeficiency]]></article-title>
<source><![CDATA[Colomb Med (Cali)]]></source>
<year>2015</year>
<volume>46</volume>
<page-range>47-50</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[Zea-Vera]]></surname>
<given-names><![CDATA[AF]]></given-names>
</name>
<name>
<surname><![CDATA[Estupiñán-López]]></surname>
<given-names><![CDATA[FE]]></given-names>
</name>
<name>
<surname><![CDATA[Cifuentes-Burbano]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Vargas]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
<name>
<surname><![CDATA[Bonelo]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Interleukin-36 receptor antagonist deficiency (DITRA) with a novel IL36RN homozygous mutation c.200G&gt;T (p.Cys67Phe) in a young Colombian woman]]></article-title>
<source><![CDATA[J Clin Immunol]]></source>
<year>2019</year>
<volume>39</volume>
<page-range>261-3</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[Zea-Vera]]></surname>
<given-names><![CDATA[AF]]></given-names>
</name>
<name>
<surname><![CDATA[Chacón]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
<name>
<surname><![CDATA[Parra]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Antibody deficiencies with normal IgG in adults with non-cystic fibrosis bronchiectasis or recurrent pneumonia: Cross-sectional study]]></article-title>
<source><![CDATA[Colomb Med]]></source>
<year>2022</year>
<volume>53</volume>
</nlm-citation>
</ref>
<ref id="B14">
<label>14.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Giraldo-Ocampo]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Bonelo]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Zea-Vera]]></surname>
<given-names><![CDATA[AF]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[B cell subsets in Colombian adults with predominantly antibody deficiencies, bronchiectasis, or recurrent pneumonia]]></article-title>
<source><![CDATA[Adv Respir Med]]></source>
<year>2022</year>
<volume>90</volume>
<page-range>254-66</page-range></nlm-citation>
</ref>
<ref id="B15">
<label>15.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Fernandes-Pineda]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Matta-Cortés]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Zea-Vera]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Errores innatos de la inmunidad]]></article-title>
<source><![CDATA[Acta Med Colomb]]></source>
<year>2023</year>
<volume>49</volume>
</nlm-citation>
</ref>
<ref id="B16">
<label>16.</label><nlm-citation citation-type="">
<collab>European Society for Immunodeficiencies</collab>
<source><![CDATA[Registry Working Party List of diseases and genes 2019]]></source>
<year></year>
</nlm-citation>
</ref>
<ref id="B17">
<label>17.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Giraldo]]></surname>
<given-names><![CDATA[A.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genetic services in Colombia]]></article-title>
<source><![CDATA[Community Genets]]></source>
<year>2004</year>
<volume>7</volume>
<page-range>126-9</page-range></nlm-citation>
</ref>
<ref id="B18">
<label>18.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Olaya]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Cleves]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Guzmán]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Torres-Canchala]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Pachajoa]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Medina-Valencia]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Demographic and clinical characterization of pediatric group patients with inborn errors of the immune system in a Colombian tertiary hospital]]></article-title>
<source><![CDATA[Allergol Immunopathol (Madr)]]></source>
<year>2022</year>
<volume>50</volume>
<page-range>17-22</page-range></nlm-citation>
</ref>
<ref id="B19">
<label>19.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Rosenberg]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Dent]]></surname>
<given-names><![CDATA[PB]]></given-names>
</name>
<name>
<surname><![CDATA[Denburg]]></surname>
<given-names><![CDATA[JA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Primary immune deficiencies in the adult: A previously underrecognized common condition]]></article-title>
<source><![CDATA[J Allergy Clin Immunol Pract]]></source>
<year>2016</year>
<volume>4</volume>
<page-range>1101-7</page-range></nlm-citation>
</ref>
<ref id="B20">
<label>20.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[JJ]]></given-names>
</name>
<name>
<surname><![CDATA[Dhir]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Hildebrand]]></surname>
<given-names><![CDATA[KJ]]></given-names>
</name>
<name>
<surname><![CDATA[Turvey]]></surname>
<given-names><![CDATA[SE]]></given-names>
</name>
<name>
<surname><![CDATA[Schellenberg]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Chen]]></surname>
<given-names><![CDATA[LY]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Inborn errors of immunity in adulthood]]></article-title>
<source><![CDATA[Allergy Asthma Clin Immunol]]></source>
<year>2024</year>
<volume>20</volume>
<numero>6</numero>
<issue>6</issue>
</nlm-citation>
</ref>
<ref id="B21">
<label>21.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Dorsey]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
<name>
<surname><![CDATA[Condino-Neto]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Improving access to therapy for patients with inborn errors of immunity: A call to action]]></article-title>
<source><![CDATA[J Allergy Clin Immunol Pract]]></source>
<year>2023</year>
<volume>11</volume>
<page-range>1698-702</page-range></nlm-citation>
</ref>
<ref id="B22">
<label>22.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Boton-Pereira]]></surname>
<given-names><![CDATA[DH]]></given-names>
</name>
<name>
<surname><![CDATA[Primo]]></surname>
<given-names><![CDATA[LS]]></given-names>
</name>
<name>
<surname><![CDATA[Pelizari]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Flores]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Moraes-Vasconcelos]]></surname>
<given-names><![CDATA[D de]]></given-names>
</name>
<name>
<surname><![CDATA[Condino-Neto]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Primary immunodeficiencies in a Mesoregion of São Paulo, Brazil: epidemiologic, clinical, and geospatial approach]]></article-title>
<source><![CDATA[Front Immunol]]></source>
<year>2020</year>
<volume>11</volume>
</nlm-citation>
</ref>
<ref id="B23">
<label>23.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Dorsey]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
<name>
<surname><![CDATA[Puck]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Newborn screening for severe combined immunodeficiency in the United States]]></article-title>
<source><![CDATA[Immunol Allergy Clin North Am]]></source>
<year>2019</year>
<volume>39</volume>
<page-range>1-11</page-range></nlm-citation>
</ref>
<ref id="B24">
<label>24.</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[Bezrodnik]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Oleastro]]></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>
<name>
<surname><![CDATA[Sevciovic-Grumach]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Primary immunodeficiency diseases in Latin America: Proceedings of the Second Latin American Society for Immunodeficiencies (LASID) Advisory Board]]></article-title>
<source><![CDATA[Allergol Immunopathol (Madr)]]></source>
<year>2011</year>
<volume>39</volume>
<page-range>106-10</page-range></nlm-citation>
</ref>
<ref id="B25">
<label>25.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Abolhassani]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Avcin]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Bahceciler]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Balashov]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Bata]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
<name>
<surname><![CDATA[Bataneant]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021]]></article-title>
<source><![CDATA[Front Immunol]]></source>
<year>2022</year>
<volume>13</volume>
</nlm-citation>
</ref>
<ref id="B26">
<label>26.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Echeverri]]></surname>
<given-names><![CDATA[EV]]></given-names>
</name>
<name>
<surname><![CDATA[Orrego-Arango]]></surname>
<given-names><![CDATA[JC]]></given-names>
</name>
<name>
<surname><![CDATA[Arias]]></surname>
<given-names><![CDATA[JAM]]></given-names>
</name>
<name>
<surname><![CDATA[Franco]]></surname>
<given-names><![CDATA[JL]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Telemedicine for inborn errors of immunity in Colombian patients: Pilot study]]></article-title>
<source><![CDATA[Clinical Immunology]]></source>
<year>2023</year>
<volume>250</volume>
<numero>109416</numero>
<issue>109416</issue>
</nlm-citation>
</ref>
<ref id="B27">
<label>27.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Seidel]]></surname>
<given-names><![CDATA[MG]]></given-names>
</name>
<name>
<surname><![CDATA[Kindle]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Gathmann]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Quinti]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Buckland]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[van Montfrans]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The European Society for Immunodeficiencies (ESID) Registry working definitions for the clinical diagnosis of inborn errors of immunity]]></article-title>
<source><![CDATA[J Allergy Clin Immunol Pract]]></source>
<year>2019</year>
<volume>7</volume>
<page-range>1763-70</page-range></nlm-citation>
</ref>
<ref id="B28">
<label>28.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ameratunga]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Lehnert]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Woon]]></surname>
<given-names><![CDATA[S-T]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[All patients with common variable immunodeficiency disorders (CVID) should be routinely offered diagnostic genetic testing]]></article-title>
<source><![CDATA[Front Immunol]]></source>
<year>2019</year>
<volume>10</volume>
</nlm-citation>
</ref>
<ref id="B29">
<label>29.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Elsink]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[van Montfrans]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
<name>
<surname><![CDATA[van Gijn]]></surname>
<given-names><![CDATA[ME]]></given-names>
</name>
<name>
<surname><![CDATA[Blom]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[van Hagen]]></surname>
<given-names><![CDATA[PM]]></given-names>
</name>
<name>
<surname><![CDATA[Kuijpers]]></surname>
<given-names><![CDATA[TW]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review]]></article-title>
<source><![CDATA[Clin Immunol]]></source>
<year>2020</year>
<volume>213</volume>
</nlm-citation>
</ref>
<ref id="B30">
<label>30.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Guaní-Guerra]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Al]]></surname>
<given-names><![CDATA[Jiménez-Romero]]></given-names>
</name>
<name>
<surname><![CDATA[García-Ramírez]]></surname>
<given-names><![CDATA[UN]]></given-names>
</name>
<name>
<surname><![CDATA[Velázquez-Ávalos]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
<name>
<surname><![CDATA[Martínez-Guzmán]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Sandoval-Ramírez]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Disease burden for patients with primary immunodeficiency diseases identified at reference hospitals in Guanajuato, Mexico]]></article-title>
<source><![CDATA[PLoS ONE]]></source>
<year>2017</year>
<volume>12</volume>
</nlm-citation>
</ref>
<ref id="B31">
<label>31.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Nabavi]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Arshi]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Bemanian]]></surname>
<given-names><![CDATA[MH]]></given-names>
</name>
<name>
<surname><![CDATA[Aghamohammadi]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Mansouri]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Hedayat]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Longterm follow-up of ninety eight Iranian patients with primary immune deficiency in a single tertiary centre]]></article-title>
<source><![CDATA[Allergol Immunopathol (Madr)]]></source>
<year>2016</year>
<volume>44</volume>
<page-range>322-30</page-range></nlm-citation>
</ref>
<ref id="B32">
<label>32.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Reda]]></surname>
<given-names><![CDATA[SM]]></given-names>
</name>
<name>
<surname><![CDATA[Afifi]]></surname>
<given-names><![CDATA[HM]]></given-names>
</name>
<name>
<surname><![CDATA[Amine]]></surname>
<given-names><![CDATA[MM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Primary immunodeficiency diseases in Egyptian children: A single-center study]]></article-title>
<source><![CDATA[J Clin Immunol]]></source>
<year>2009</year>
<volume>29</volume>
<page-range>343-51</page-range></nlm-citation>
</ref>
<ref id="B33">
<label>33.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Staels]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Collignon]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Betrains]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Gerbaux]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Willemsen]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Humblet-Baron]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Monogenic adult-onset inborn errors of immunity]]></article-title>
<source><![CDATA[Front Immunol]]></source>
<year>2021</year>
<volume>12</volume>
</nlm-citation>
</ref>
<ref id="B34">
<label>34.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Al-Tamemi]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Al-Zadjali]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Bruwer]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
<name>
<surname><![CDATA[Naseem]]></surname>
<given-names><![CDATA[S-U-R]]></given-names>
</name>
<name>
<surname><![CDATA[Al-Siyabi]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[ALRawahi]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genetic causes, clinical features, and survival of underlying inborn errors of immunity in Omani patients: A single-center study]]></article-title>
<source><![CDATA[J Clin Immunol]]></source>
<year>2023</year>
<volume>43</volume>
<page-range>452-65</page-range></nlm-citation>
</ref>
<ref id="B35">
<label>35.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Al-Herz]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Moussa]]></surname>
<given-names><![CDATA[MAA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Survival and predictors of death among primary immunodeficient patients: A registry-based study]]></article-title>
<source><![CDATA[J Clin Immunol]]></source>
<year>2012</year>
<volume>32</volume>
<page-range>467-73</page-range></nlm-citation>
</ref>
<ref id="B36">
<label>36.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Modell]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Orange]]></surname>
<given-names><![CDATA[JS]]></given-names>
</name>
<name>
<surname><![CDATA[Quinn]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Modell]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes]]></article-title>
<source><![CDATA[Immunol Res]]></source>
<year>2018</year>
<volume>66</volume>
<page-range>367-80</page-range></nlm-citation>
</ref>
<ref id="B37">
<label>37.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Locke]]></surname>
<given-names><![CDATA[BA]]></given-names>
</name>
<name>
<surname><![CDATA[Dasu]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Verbsky]]></surname>
<given-names><![CDATA[JW]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Laboratory diagnosis of primary immunodeficiencies]]></article-title>
<source><![CDATA[Clin Rev Allergy Immunol]]></source>
<year>2014</year>
<volume>46</volume>
<page-range>154-68</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
