<?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>0034-8376</journal-id>
<journal-title><![CDATA[Revista de investigación clínica]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. invest. clín.]]></abbrev-journal-title>
<issn>0034-8376</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0034-83762022000600328</article-id>
<article-id pub-id-type="doi">10.24875/ric.22000234</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[López-Rodríguez]]></surname>
<given-names><![CDATA[Larissa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Svyryd]]></surname>
<given-names><![CDATA[Yevgeniya]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Benítez-Alonso]]></surname>
<given-names><![CDATA[Edmar O.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rivero-García]]></surname>
<given-names><![CDATA[Pamela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Luna-Muñoz]]></surname>
<given-names><![CDATA[Leonora]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mutchinick]]></surname>
<given-names><![CDATA[Osvaldo M.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Department of Genetics ]]></institution>
<addr-line><![CDATA[Mexico City ]]></addr-line>
<country>Mexico</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>74</volume>
<numero>6</numero>
<fpage>328</fpage>
<lpage>339</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0034-83762022000600328&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0034-83762022000600328&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0034-83762022000600328&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Background: Severe congenital neutropenia type 4 (SCN4) is a rare autosomal recessive granulopoiesis disorder caused by G6PC3 gene pathogenic variants. The estimated prevalence is 1/10,000,000 people. Over 90% of patients present a syndromic form with variable multisystemic involvement, including congenital heart defects, increased visibility of superficial veins (IVSV), inflammatory bowel disease, and congenital urogenital defects as prominent symptoms.  Objectives: The objective of the study was to study non-hematological phenotypic findings that suggest a clinical diagnosis of SCN4.  Methods: We examined medical records of patients diagnosed with neutropenia from January 2000 to December 2020, selecting cases with non-hematologic manifestations for phenotypic description and G6PC3 gene sequencing.  Results: We found 11 cases with non-hematologic features: congenital heart defects in 8, IVSV in 6, inflammatory bowel disease in 4, urogenital defects in 4, and similar facial appearance. In addition, Sanger sequencing confirmed 3 homozygous cases for the c.210delC variant, a compound heterozygous harboring this variant, and a c.199_218+1 deletion.  Conclusions: Our findings of the c.210delC variant in very close geographical settings, to date, have only been reported among Mexicans, and a mutual uncommon surname in two families strongly supports a founder effect for the variant in the studied population. Furthermore, the described non-hematologic symptoms in patients with severe primary neutropenia should be explored, confirming SCN4 by investigating G6PC3 gene mutations.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Neutropenia]]></kwd>
<kwd lng="en"><![CDATA[Severe congenital neutropenia]]></kwd>
<kwd lng="en"><![CDATA[Severe congenital neutropenia type 4]]></kwd>
<kwd lng="en"><![CDATA[G6PC3 mutations]]></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[Skokowa]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Dale]]></surname>
<given-names><![CDATA[DC]]></given-names>
</name>
<name>
<surname><![CDATA[Touw]]></surname>
<given-names><![CDATA[IP]]></given-names>
</name>
<name>
<surname><![CDATA[Zeidler]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Welte]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Severe congenital neutropenias]]></article-title>
<source><![CDATA[Nat Rev Dis Prim.]]></source>
<year>2017</year>
<volume>3</volume>
<page-range>17032</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[Boztug]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Appaswamy]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Ashikov]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Schäffer]]></surname>
<given-names><![CDATA[AA]]></given-names>
</name>
<name>
<surname><![CDATA[Salzer]]></surname>
<given-names><![CDATA[U]]></given-names>
</name>
<name>
<surname><![CDATA[Diestelhorst]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A syndrome with congenital neutropenia and mutations in G6PC3]]></article-title>
<source><![CDATA[N Engl J Med]]></source>
<year>2009</year>
<volume>360</volume>
<page-range>32-43</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[Dursun]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Ozgul]]></surname>
<given-names><![CDATA[RK]]></given-names>
</name>
<name>
<surname><![CDATA[Soydas]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Tugrul]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Gurgey]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Celiker]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement]]></article-title>
<source><![CDATA[Clin Dysmorphol]]></source>
<year>2009</year>
<volume>18</volume>
<page-range>19-23</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[Banka]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Newman]]></surname>
<given-names><![CDATA[WG]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations]]></article-title>
<source><![CDATA[Orphanet J Rare Dis.]]></source>
<year>2013</year>
<volume>8</volume>
<page-range>84</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[Boztug]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Rosenberg]]></surname>
<given-names><![CDATA[PS]]></given-names>
</name>
<name>
<surname><![CDATA[Dorda]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Banka]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Moulton]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Curtin]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia]]></article-title>
<source><![CDATA[J Pediatr]]></source>
<year>2012</year>
<volume>160</volume>
<page-range>679-83</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Donadieu]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Beaupain]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Lapillonne]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Fenneteau]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Sicre de Fontbrune]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Bertrand]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[How many patients have congenital neutropenia? a population-based estimation from the nationwide french severe chronic neutropenia registry]]></article-title>
<source><![CDATA[Blood]]></source>
<year>2020</year>
<volume>136</volume>
<page-range>40-1</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[Martin]]></surname>
<given-names><![CDATA[CC]]></given-names>
</name>
<name>
<surname><![CDATA[Oeser]]></surname>
<given-names><![CDATA[JK]]></given-names>
</name>
<name>
<surname><![CDATA[Svitek]]></surname>
<given-names><![CDATA[CA]]></given-names>
</name>
<name>
<surname><![CDATA[Hunter]]></surname>
<given-names><![CDATA[SI]]></given-names>
</name>
<name>
<surname><![CDATA[Hutton]]></surname>
<given-names><![CDATA[JC]]></given-names>
</name>
<name>
<surname><![CDATA[O&#8217;Brien]]></surname>
<given-names><![CDATA[RM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein]]></article-title>
<source><![CDATA[J Mol Endocrinol.]]></source>
<year>2002</year>
<volume>29</volume>
<page-range>205-22</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[Chou]]></surname>
<given-names><![CDATA[JY]]></given-names>
</name>
<name>
<surname><![CDATA[Jun]]></surname>
<given-names><![CDATA[HS]]></given-names>
</name>
<name>
<surname><![CDATA[Mansfield]]></surname>
<given-names><![CDATA[BC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Glycogen storage disease Type I and G6Pase-&#946; deficiency: etiology and therapy]]></article-title>
<source><![CDATA[Nat Rev Endocrinol.]]></source>
<year>2010</year>
<volume>612</volume>
<page-range>676-88</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[Jun]]></surname>
<given-names><![CDATA[HS]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[YM]]></given-names>
</name>
<name>
<surname><![CDATA[Cheung]]></surname>
<given-names><![CDATA[YY]]></given-names>
</name>
<name>
<surname><![CDATA[McDermott]]></surname>
<given-names><![CDATA[DH]]></given-names>
</name>
<name>
<surname><![CDATA[Murphy]]></surname>
<given-names><![CDATA[PM]]></given-names>
</name>
<name>
<surname><![CDATA[De Ravin]]></surname>
<given-names><![CDATA[SS]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase-&#946;-deficient neutrophils in a congenital neutropenia syndrome]]></article-title>
<source><![CDATA[Blood]]></source>
<year>2010</year>
<volume>116</volume>
<page-range>2783-92</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[Veiga-da-Cunha]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Chevalier]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Stephenne]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Defour]]></surname>
<given-names><![CDATA[JP]]></given-names>
</name>
<name>
<surname><![CDATA[Paczia]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Ferster]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency]]></article-title>
<source><![CDATA[Proc Natl Acad Sci U. S. A.]]></source>
<year>2019</year>
<volume>116</volume>
<page-range>1241-50</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[Donadieu]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Fenneteau]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Beaupain]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Mahlaoui]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Chantelot]]></surname>
<given-names><![CDATA[CB]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Congenital neutropenia: diagnosis, molecular bases and patient management]]></article-title>
<source><![CDATA[Orphanet J Rare Dis.]]></source>
<year>2011</year>
<volume>6</volume>
<page-range>1-28</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[Banka]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Chervinsky]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Newman]]></surname>
<given-names><![CDATA[WG]]></given-names>
</name>
<name>
<surname><![CDATA[Crow]]></surname>
<given-names><![CDATA[YJ]]></given-names>
</name>
<name>
<surname><![CDATA[Yeganeh]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Yacobovich]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Further delineation of the phenotype of severe congenital neutropenia Type 4 due to mutations in G6PC3]]></article-title>
<source><![CDATA[Eur J Hum Genet]]></source>
<year>2011</year>
<volume>19</volume>
<page-range>18-22</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[Khera]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Pramanik]]></surname>
<given-names><![CDATA[SK]]></given-names>
</name>
<name>
<surname><![CDATA[Patnaik]]></surname>
<given-names><![CDATA[SK]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A novel mutation in G6PC3 gene associated non-syndromic severe congenital neutropenia]]></article-title>
<source><![CDATA[Indian Pediatr.]]></source>
<year>2020</year>
<volume>57</volume>
<page-range>574-5</page-range></nlm-citation>
</ref>
<ref id="B14">
<label>14.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Okonechnikov]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Golosova]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Fursov]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Varlamov]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Vaskin]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Efremov]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Unipro UGENE: a unified bioinformatics toolkit]]></article-title>
<source><![CDATA[Bioinformatics]]></source>
<year>2012</year>
<volume>28</volume>
<page-range>1166-7</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[Landrum]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
<name>
<surname><![CDATA[Benson]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Brown]]></surname>
<given-names><![CDATA[GR]]></given-names>
</name>
<name>
<surname><![CDATA[Chao]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Chitipiralla]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[ClinVar: improving access to variant interpretations and supporting evidence]]></article-title>
<source><![CDATA[Nucleic Acids Res.]]></source>
<year>2018</year>
<volume>46</volume>
<page-range>D1062-7</page-range></nlm-citation>
</ref>
<ref id="B16">
<label>16.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Velez-Tirado]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Yamazaki-Nakashimada]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
<name>
<surname><![CDATA[Lopez Valentín]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Partida-Gaytan]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Scheffler-Mendoza]]></surname>
<given-names><![CDATA[SC]]></given-names>
</name>
<name>
<surname><![CDATA[Chaia Semerena]]></surname>
<given-names><![CDATA[GM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Severe congenital neutropenia due to G6PC3 deficiency: case series of five patients and literature review]]></article-title>
<source><![CDATA[Scand J Immunol]]></source>
<year>2022</year>
<volume>95</volume>
<page-range>e13136</page-range></nlm-citation>
</ref>
<ref id="B17">
<label>17.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Karczewski]]></surname>
<given-names><![CDATA[KJ]]></given-names>
</name>
<name>
<surname><![CDATA[Francioli]]></surname>
<given-names><![CDATA[LC]]></given-names>
</name>
<name>
<surname><![CDATA[Tiao]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Cummings]]></surname>
<given-names><![CDATA[BB]]></given-names>
</name>
<name>
<surname><![CDATA[Alföldi]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[Q]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The mutational constraint spectrum quantified from variation in 141,456 humans]]></article-title>
<source><![CDATA[Nature]]></source>
<year>2020</year>
<volume>581</volume>
<page-range>434-43</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[Tapia-Conyer]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Kuri-Morales]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Alegre-Díaz]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Whitlock]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Emberson]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Clark]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cohort Profile: The Mexico City Prospective Study]]></article-title>
<source><![CDATA[Int J Epidemiol.]]></source>
<year>2006</year>
<volume>35</volume>
<page-range>243-9</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[Desplantes]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Fremond]]></surname>
<given-names><![CDATA[ML]]></given-names>
</name>
<name>
<surname><![CDATA[Beaupain]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Harousseau]]></surname>
<given-names><![CDATA[JL]]></given-names>
</name>
<name>
<surname><![CDATA[Buzyn]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Pellier]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry]]></article-title>
<source><![CDATA[Orphanet J Rare Dis]]></source>
<year>2014</year>
<volume>9</volume>
<page-range>1-15</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[Naik]]></surname>
<given-names><![CDATA[RJ]]></given-names>
</name>
<name>
<surname><![CDATA[Shah]]></surname>
<given-names><![CDATA[NC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Teenage heart murmurs]]></article-title>
<source><![CDATA[Pediatr Clin.]]></source>
<year>2014</year>
<volume>61</volume>
<page-range>1-16</page-range></nlm-citation>
</ref>
<ref id="B21">
<label>21.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Mistry]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Scambler]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Parry]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Wood]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Barcenas-Morales]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Carter]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency associated with autoinflammatory complications]]></article-title>
<source><![CDATA[Front Immunol]]></source>
<year>2017</year>
<volume>8</volume>
<page-range>1485</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[Hu]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Venema]]></surname>
<given-names><![CDATA[WTU]]></given-names>
</name>
<name>
<surname><![CDATA[Westra]]></surname>
<given-names><![CDATA[HJ]]></given-names>
</name>
<name>
<surname><![CDATA[Vila]]></surname>
<given-names><![CDATA[AV]]></given-names>
</name>
<name>
<surname><![CDATA[Barbieri]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Voskuil]]></surname>
<given-names><![CDATA[MD]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Inflammation status modulates the effect of host genetic variation on intestinal gene expression in inflammatory bowel disease]]></article-title>
<source><![CDATA[Nat Commun]]></source>
<year>2021</year>
<volume>12</volume>
<page-range>1-10</page-range></nlm-citation>
</ref>
<ref id="B23">
<label>23.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Bolton]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Burch]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Morgan]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Harrison]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Pandey]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Pagnamenta]]></surname>
<given-names><![CDATA[AT]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Remission of inflammatory bowel disease in glucose-6-phosphatase 3 deficiency by allogeneic haematopoietic stem cell transplantation]]></article-title>
<source><![CDATA[J Crohn&#8217;s Colitis]]></source>
<year>2020</year>
<volume>14</volume>
<page-range>142-7</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[Dorbeker-Azcona]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Bellane-Chantelot]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Olaya-Vargas]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Pérez-García]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Escamilla-Quiroz]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Martínez-Bernal]]></surname>
<given-names><![CDATA[AB]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Severe congenital neutropenia with a novel ELANE mutation in 2 Mexican patients]]></article-title>
<source><![CDATA[J Investig Allergol Clin Immunol]]></source>
<year>2014</year>
<volume>24</volume>
<page-range>267-85</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
